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NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Aug 25, 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:
RCV000036479.9

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)]

NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)

Genes:
LOC123956210:Sharpr-MPRA regulatory region 3291 [Gene]
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
HGVS:
  • NC_000007.14:g.107710154G>T
  • NG_008489.1:g.54520G>T
  • NM_000441.2:c.2190G>TMANE SELECT
  • NP_000432.1:p.Gln730His
  • NC_000007.13:g.107350599G>T
  • NM_000441.1:c.2190G>T
  • c.2190G>T
Protein change:
Q730H
Links:
dbSNP: rs142723249
NCBI 1000 Genomes Browser:
rs142723249
Molecular consequence:
  • NM_000441.2:c.2190G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000060134Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(May 4, 2012) 		germlineclinical testing

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

SCV000334674Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely benign
(Aug 25, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided22not 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, SCV000060134.6

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

Description

Gln730His in exon 19 of SLC26A4: This variant is not expected to have clinical s ignificance because it is has been identified in 0.3% (11/3738) of African Ameri can chromosomes from a broad population by the NHLBI Exome sequencing project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs142723249).

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

From Eurofins Ntd Llc (ga), SCV000334674.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024