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NM_001166347.2(SLC26A11):c.772G>T (p.Val258Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
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:
RCV004696387.1

Allele description [Variation Report for NM_001166347.2(SLC26A11):c.772G>T (p.Val258Phe)]

NM_001166347.2(SLC26A11):c.772G>T (p.Val258Phe)

Gene:
SLC26A11:solute carrier family 26 member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001166347.2(SLC26A11):c.772G>T (p.Val258Phe)
HGVS:
  • NC_000017.11:g.80236963G>T
  • NG_137951.1:g.224G>T
  • NM_001166347.2:c.772G>TMANE SELECT
  • NM_001166348.2:c.772G>T
  • NM_001166349.2:c.772G>T
  • NM_173626.4:c.772G>T
  • NP_001159819.1:p.Val258Phe
  • NP_001159820.1:p.Val258Phe
  • NP_001159821.1:p.Val258Phe
  • NP_775897.3:p.Val258Phe
  • NC_000017.10:g.78210762G>T
  • NM_001166347.1:c.772G>T
Protein change:
V258F
Molecular consequence:
  • NM_001166347.2:c.772G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166348.2:c.772G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166349.2:c.772G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173626.4:c.772G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005193159Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significancegermlinenot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providednot provided

Citations

PubMed

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 Breakthrough Genomics, Breakthrough Genomics, SCV005193159.1

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

Last Updated: Nov 24, 2024