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NM_001010892.3(RSPH4A):c.*8A>G AND not specified

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Dec 10, 2015
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000217756.10

Allele description [Variation Report for NM_001010892.3(RSPH4A):c.*8A>G]

NM_001010892.3(RSPH4A):c.*8A>G

Gene:
RSPH4A:radial spoke head component 4A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.1
Genomic location:
Preferred name:
NM_001010892.3(RSPH4A):c.*8A>G
HGVS:
  • NC_000006.12:g.116632449A>G
  • NG_012934.1:g.20971A>G
  • NM_001010892.3:c.*8A>GMANE SELECT
  • NM_001161664.2:c.*220A>G
  • NC_000006.11:g.116953612A>G
  • NM_001010892.2:c.*8A>G
Links:
dbSNP: rs575857124
NCBI 1000 Genomes Browser:
rs575857124
Molecular consequence:
  • NM_001010892.3:c.*8A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001161664.2:c.*220A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
Observations:
2

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
SCV000269763Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Dec 10, 2015)
germlineclinical testing

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

SCV000305823PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000269763.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

c.*8A>G in RSPH4A: This variant is not expected to have clinical significance be cause it has been identified in 3% (404/12030) of South Asian chromosomes, inclu ding 7 homozygotes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs575857124).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

From PreventionGenetics, part of Exact Sciences, SCV000305823.1

#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: Mar 10, 2024