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NM_004594.3(SLC9A5):c.1330G>A (p.Val444Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 26, 2023
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:
RCV004207262.1

Allele description [Variation Report for NM_004594.3(SLC9A5):c.1330G>A (p.Val444Met)]

NM_004594.3(SLC9A5):c.1330G>A (p.Val444Met)

Gene:
SLC9A5:solute carrier family 9 member A5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004594.3(SLC9A5):c.1330G>A (p.Val444Met)
HGVS:
  • NC_000016.10:g.67257108G>A
  • NM_001323971.2:c.1330G>A
  • NM_001323972.2:c.1027G>A
  • NM_001323973.2:c.1330G>A
  • NM_001323974.2:c.445G>A
  • NM_001323975.2:c.445G>A
  • NM_004594.3:c.1330G>AMANE SELECT
  • NP_001310900.1:p.Val444Met
  • NP_001310901.1:p.Val343Met
  • NP_001310902.1:p.Val444Met
  • NP_001310903.1:p.Val149Met
  • NP_001310904.1:p.Val149Met
  • NP_004585.1:p.Val444Met
  • NC_000016.9:g.67291011G>A
  • NM_004594.2:c.1330G>A
  • NR_136664.2:n.1280G>A
  • NR_136665.2:n.1227G>A
  • NR_136666.2:n.1188G>A
  • NR_136667.2:n.1280G>A
Protein change:
V149M
Molecular consequence:
  • NM_001323971.2:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323972.2:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323973.2:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323974.2:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323975.2:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004594.3:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136664.2:n.1280G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136665.2:n.1227G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136666.2:n.1188G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136667.2:n.1280G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003708658Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 26, 2023) 		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, SCV003708658.2

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

Description

The c.1330G>A (p.V444M) alteration is located in exon 7 (coding exon 7) of the SLC9A5 gene. This alteration results from a G to A substitution at nucleotide position 1330, causing the valine (V) at amino acid position 444 to be replaced by a methionine (M). 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: Nov 10, 2024