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NM_000020.3(ACVRL1):c.937C>T (p.Leu313=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 21, 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:
RCV004522774.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.937C>T (p.Leu313=)]

NM_000020.3(ACVRL1):c.937C>T (p.Leu313=)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.937C>T (p.Leu313=)
HGVS:
  • NC_000012.12:g.51915389C>T
  • NG_009549.1:g.12972C>T
  • NG_125718.1:g.688C>T
  • NM_000020.3:c.937C>TMANE SELECT
  • NM_001077401.2:c.937C>T
  • NM_001406487.1:c.937C>T
  • NM_001406488.1:c.937C>T
  • NM_001406489.1:c.937C>T
  • NM_001406490.1:c.625C>T
  • NM_001406491.1:c.625C>T
  • NM_001406492.1:c.625C>T
  • NM_001406493.1:c.625C>T
  • NM_001406494.1:c.625C>T
  • NM_001406495.1:c.373C>T
  • NP_000011.2:p.Leu313=
  • NP_000011.2:p.Leu313=
  • NP_001070869.1:p.Leu313=
  • NP_001393416.1:p.Leu313=
  • NP_001393417.1:p.Leu313=
  • NP_001393418.1:p.Leu313=
  • NP_001393419.1:p.Leu209=
  • NP_001393420.1:p.Leu209=
  • NP_001393421.1:p.Leu209=
  • NP_001393422.1:p.Leu209=
  • NP_001393423.1:p.Leu209=
  • NP_001393424.1:p.Leu125=
  • LRG_543t1:c.937C>T
  • LRG_543:g.12972C>T
  • LRG_543p1:p.Leu313=
  • NC_000012.11:g.52309173C>T
  • NM_000020.2:c.937C>T
Molecular consequence:
  • NM_000020.3:c.937C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001077401.2:c.937C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406487.1:c.937C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406488.1:c.937C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406489.1:c.937C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406490.1:c.625C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406491.1:c.625C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406492.1:c.625C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406493.1:c.625C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406494.1:c.625C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406495.1:c.373C>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
SCV005033061Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 21, 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, SCV005033061.1

#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: May 7, 2024