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_004985.5(KRAS):c.-160A>G

CA176498

163771 (ClinVar)

Gene: KRAS

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 314b9d63-58ac-4c72-a617-acc0ca7dfa74

HGVS expressions

NM_004985.5:c.-160A>G

NM_004985.5(KRAS):c.-160A>G

NM_004985.4:c.-160A>G

NM_033360.3:c.-160A>G

ENST00000311936.7:c.-160A>G

ENST00000556131.1:c.-147A>G

ENST00000557334.5:c.-160A>G

NC_000012.12:g.25250899T>C

CM000674.2:g.25250899T>C

NC_000012.11:g.25403833T>C

CM000674.1:g.25403833T>C

NC_000012.10:g.25295100T>C

NG_007524.1:g.5022A>G

Benign

BP7 BP4 BA1

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.-160A>G variant in KRAS is classified as benign because it has been identified in 0.22088% (95% CI of 27/8628) of African alleles in gnomAD (BA1; https://gnomad.broadinstitute.org). This variant is not located within the splice consensus sequence and computational splice site prediction tools do not predict an impact on splicing (BP4, BP7). ACMG/AMP Criteria applied: BA1, BP4, BP7.

BP7

Variant is outside of the splice consensus sequence and Alamut predicts no impact to splicing.

BP4

Splicing not predicted to be impacted by Alamut. Conservation data not applicable. REVEL score not provided.

BA1

Present in 0.22088% (95% CI of 27/8628) of African alleles in gnomAD

Approved on: 2019-11-04

Published on: 2019-11-04

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