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NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) AND RASopathy

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 3, 2017
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000519779.3

Allele description [Variation Report for NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)]

NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)

Genes:
HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)
Other names:
p.N86T:AAC>ACC; NM_005343.3(HRAS):c.257A>C; p.Asn86Thr
HGVS:
  • NC_000011.10:g.533799T>G
  • NG_007666.1:g.6752A>C
  • NM_001130442.3:c.257A>C
  • NM_001318054.2:c.-63A>C
  • NM_005343.4:c.257A>CMANE SELECT
  • NM_176795.5:c.257A>C
  • NP_001123914.1:p.Asn86Thr
  • NP_005334.1:p.Asn86Thr
  • NP_789765.1:p.Asn86Thr
  • LRG_506t1:c.257A>C
  • LRG_506:g.6752A>C
  • LRG_506p1:p.Asn86Thr
  • NC_000011.9:g.533799T>G
  • NM_005343.2:c.257A>C
  • NM_005343.3:c.257A>C
Protein change:
N86T
Links:
dbSNP: rs138272051
NCBI 1000 Genomes Browser:
rs138272051
Molecular consequence:
  • NM_001318054.2:c.-63A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005343.4:c.257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_176795.5:c.257A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
RASopathy
Synonyms:
rasopathies; Noonan spectrum disorder
Identifiers:
MONDO: MONDO:0021060; MedGen: C5555857

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000616398ClinGen RASopathy Variant Curation Expert Panel
reviewed by expert panel

(ClinGen RASopathy ACMG Specifications v1)		Benign
(Apr 3, 2017) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen RASopathy Variant Curation Expert Panel, SCV000616398.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The filtering allele frequency of the c.257A>C (p.Asn86Thr) variant in the HRAS gene is 0.07% for African chromosomes by the Exome Aggregation Consortium (12/10342 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data GTR ID: 21766, 26957 ClinVar SCV000204177.4; SCV000207861.7). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied: BA1, BP5.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024