NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) AND not specified

Clinical significance:Likely benign (Last evaluated: Feb 8, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000147034.6

Allele description [Variation Report for NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)]

NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)

Gene:
PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)
HGVS:
  • NC_000017.11:g.2667186T>C
  • NG_009799.1:g.78558T>C
  • NM_000430.4:c.387T>CMANE SELECT
  • NP_000421.1:p.Asp129=
  • NC_000017.10:g.2570480T>C
  • NM_000430.3:c.387T>C
Links:
dbSNP: rs140936904
NCBI 1000 Genomes Browser:
rs140936904
Molecular consequence:
  • NM_000430.4:c.387T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000194376Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Likely benign
(Feb 8, 2013)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000194376.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center