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NM_005343.4(HRAS):c.249C>T (p.Ala83=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 5, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003162337.2

Allele description [Variation Report for NM_005343.4(HRAS):c.249C>T (p.Ala83=)]

NM_005343.4(HRAS):c.249C>T (p.Ala83=)

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.249C>T (p.Ala83=)
HGVS:
  • NC_000011.10:g.533807G>A
  • NG_007666.1:g.6744C>T
  • NM_001130442.3:c.249C>T
  • NM_001318054.2:c.-71C>T
  • NM_005343.3:c.249C>T
  • NM_005343.4:c.249C>TMANE SELECT
  • NM_176795.5:c.249C>T
  • NP_001123914.1:p.Ala83=
  • NP_005334.1:p.Ala83=
  • NP_789765.1:p.Ala83=
  • LRG_506t1:c.249C>T
  • LRG_506:g.6744C>T
  • LRG_506p1:p.Ala83=
  • NC_000011.9:g.533807G>A
  • NM_005343.2:c.249C>T
  • c.249C>T
  • p.Ala83Ala
Links:
dbSNP: rs111372582
NCBI 1000 Genomes Browser:
rs111372582
Molecular consequence:
  • NM_001318054.2:c.-71C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130442.3:c.249C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005343.4:c.249C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_176795.5:c.249C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003863999Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 5, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003863999.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 20, 2024