ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.112-5C>T

gnomAD frequency: 0.00001  dbSNP: rs376520586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768256 SCV000898793 uncertain significance Noonan syndrome 3; Linear nevus sebaceous syndrome; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2 2018-01-18 criteria provided, single submitter clinical testing KRAS NM_004985.4 exon 3 c.112-5C>T: This variant has not been reported in the literature but is present in 1/15268 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs376520586). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV002533940 SCV001076955 likely benign RASopathy 2023-08-17 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224447 SCV003920138 uncertain significance Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer 2021-11-23 criteria provided, single submitter clinical testing KRAS NM_004985 exon 3 c.112-5C>T: This variant has not been reported in the literature but is present in 1/15268 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs376520586). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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