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NM_052961.4(SLC26A8):c.2830C>A (p.Gln944Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 2024
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:
RCV004456715.1

Allele description [Variation Report for NM_052961.4(SLC26A8):c.2830C>A (p.Gln944Lys)]

NM_052961.4(SLC26A8):c.2830C>A (p.Gln944Lys)

Gene:
SLC26A8:solute carrier family 26 member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_052961.4(SLC26A8):c.2830C>A (p.Gln944Lys)
HGVS:
  • NC_000006.12:g.35943983G>T
  • NG_033897.1:g.85654C>A
  • NM_001193476.2:c.2830C>A
  • NM_052961.4:c.2830C>AMANE SELECT
  • NM_138718.3:c.2515C>A
  • NP_001180405.1:p.Gln944Lys
  • NP_443193.1:p.Gln944Lys
  • NP_619732.2:p.Gln839Lys
  • NC_000006.11:g.35911760G>T
  • NM_052961.3:c.2830C>A
Protein change:
Q839K
Molecular consequence:
  • NM_001193476.2:c.2830C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052961.4:c.2830C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138718.3:c.2515C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004951739Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 7, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004951739.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2830C>A (p.Q944K) alteration is located in exon 20 (coding exon 19) of the SLC26A8 gene. This alteration results from a C to A substitution at nucleotide position 2830, causing the glutamine (Q) at amino acid position 944 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024