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NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Aug 12, 2015
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:
RCV000038853.9

Allele description [Variation Report for NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe)]

NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe)

Gene:
ANKRD1:ankyrin repeat domain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe)
HGVS:
  • NC_000010.11:g.90916262G>A
  • NG_023227.1:g.10014C>T
  • NM_014391.3:c.560C>TMANE SELECT
  • NP_055206.2:p.Ser187Phe
  • NP_055206.2:p.Ser187Phe
  • LRG_379t1:c.560C>T
  • LRG_379:g.10014C>T
  • LRG_379p1:p.Ser187Phe
  • NC_000010.10:g.92676019G>A
  • NM_014391.2:c.560C>T
  • c.560C>T
Protein change:
S187F
Links:
dbSNP: rs397517251
NCBI 1000 Genomes Browser:
rs397517251
Molecular consequence:
  • NM_014391.3:c.560C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000062531Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely benign
(Aug 12, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001921355Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided43not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000062531.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

p.Ser187Phe in exon 6 of ANKRD1: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (79/16430) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs397517251).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided3not provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001921355.1

#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: Sep 29, 2024