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NM_000020.3(ACVRL1):c.140G>A (p.Arg47Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 1, 2022
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:
RCV003391828.10

Allele description [Variation Report for NM_000020.3(ACVRL1):c.140G>A (p.Arg47Gln)]

NM_000020.3(ACVRL1):c.140G>A (p.Arg47Gln)

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.140G>A (p.Arg47Gln)
HGVS:
  • NC_000012.12:g.51913177G>A
  • NG_009549.1:g.10760G>A
  • NM_000020.3:c.140G>AMANE SELECT
  • NM_001077401.2:c.140G>A
  • NM_001406487.1:c.140G>A
  • NM_001406488.1:c.140G>A
  • NM_001406489.1:c.140G>A
  • NM_001406490.1:c.140G>A
  • NM_001406491.1:c.140G>A
  • NM_001406492.1:c.140G>A
  • NM_001406493.1:c.140G>A
  • NM_001406494.1:c.140G>A
  • NM_001406495.1:c.61+642G>A
  • NP_000011.2:p.Arg47Gln
  • NP_000011.2:p.Arg47Gln
  • NP_001070869.1:p.Arg47Gln
  • NP_001393416.1:p.Arg47Gln
  • NP_001393417.1:p.Arg47Gln
  • NP_001393418.1:p.Arg47Gln
  • NP_001393419.1:p.Arg47Gln
  • NP_001393420.1:p.Arg47Gln
  • NP_001393421.1:p.Arg47Gln
  • NP_001393422.1:p.Arg47Gln
  • NP_001393423.1:p.Arg47Gln
  • LRG_543t1:c.140G>A
  • LRG_543:g.10760G>A
  • LRG_543p1:p.Arg47Gln
  • NC_000012.11:g.52306961G>A
  • NM_000020.2:c.140G>A
Protein change:
R47Q
Molecular consequence:
  • NM_001406495.1:c.61+642G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000020.3:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406487.1:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406488.1:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406489.1:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406490.1:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406491.1:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406492.1:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406493.1:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406494.1:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004133332CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Aug 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004133332.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACVRL1: PM1, PM2:Supporting, PM5:Supporting, BP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024