Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_004985.4(KRAS):c.451-14T>C

CA176485

138060 (ClinVar)

Gene: KRAS

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 8ec28790-8df3-4c37-9e77-84dddf694f7a

HGVS expressions

NM_004985.4:c.451-14T>C

NM_004985.4(KRAS):c.451-14T>C

NC_000012.12:g.25209925A>G

CM000674.2:g.25209925A>G

NC_000012.11:g.25362859A>G

CM000674.1:g.25362859A>G

NC_000012.10:g.25254126A>G

NG_007524.1:g.45996T>C

NM_033360.3:c.*5-14T>C

ENST00000256078.8:c.*5-14T>C

ENST00000311936.7:c.451-14T>C

ENST00000557334.5:c.112-14T>C

Likely Benign

BP7 BP4

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.451-14T>C variant in KRAS has been seen in 3 cases undergoing RASopathy panel testing (PS4 not met; LMM, GeneDx internal data; GTR ID: 26957, 21766; ClinVar SCV000170023.9, SCV000198459.4) is an intronic variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). Computational prediction tools and conservation analysis suggest that the variant does not impact the protein (BP4). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP4, BP7.

BP7

The c.451-14T>C variant has been seen in 3 cases undergoing RASopathy panel testing (PS4 not met; LMM, GeneDx internal data; ClinVar SCV000170023, SCV000198459) is an intronic variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7).

BP4

Computational prediction tools and conservation analysis suggest that the variant does not impact the protein (BP4).

Approved on: 2017-04-03

Published on: 2018-12-10

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