NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000755791.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)]

NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)
HGVS:
  • NC_000012.12:g.51914573_51914575del
  • NG_009549.1:g.12156_12158del
  • NM_000020.3:c.760_762delMANE SELECT
  • NM_001077401.2:c.760_762del
  • NP_000011.2:p.Asp254del
  • NP_000011.2:p.Asp254del
  • NP_001070869.1:p.Asp254del
  • LRG_543:g.12156_12158del
  • NC_000012.11:g.52308357_52308359del
  • NM_000020.2:c.760_762delGAC
Protein change:
D254del
Links:
OMIM: 601284.0008; dbSNP: rs387906393
NCBI 1000 Genomes Browser:
rs387906393
Molecular consequence:
  • NM_000020.3:c.760_762del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001077401.2:c.760_762del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000883363ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(May 23, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000883363.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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