NM_000020.2(ACVRL1):c.*58G>A AND not provided

Clinical significance:Likely benign (Last evaluated: Jun 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001566407.3

Allele description [Variation Report for NM_000020.2(ACVRL1):c.*58G>A]

NM_000020.2(ACVRL1):c.*58G>A

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_000020.2(ACVRL1):c.*58G>A
HGVS:
  • NC_000012.12:g.51920951G>A
  • NG_009549.1:g.18534G>A
  • NM_000020.2:c.*58G>A
  • NM_001077401.2:c.*58G>A
  • LRG_543t1:c.*58G>A
  • LRG_543:g.18534G>A
  • NC_000012.11:g.52314735G>A
Links:
dbSNP: rs182368657
NCBI 1000 Genomes Browser:
rs182368657
Molecular consequence:
  • NM_000020.2:c.*58G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001077401.2:c.*58G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001789919GeneDxcriteria provided, single submitter
Likely benign
(Jun 16, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001789919.1

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

Last Updated: Oct 8, 2021

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