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NM_138773.4(SLC25A46):c.19G>A (p.Asp7Asn) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 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:
RCV004671586.1

Allele description [Variation Report for NM_138773.4(SLC25A46):c.19G>A (p.Asp7Asn)]

NM_138773.4(SLC25A46):c.19G>A (p.Asp7Asn)

Gene:
SLC25A46:solute carrier family 25 member 46 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.1
Genomic location:
Preferred name:
NM_138773.4(SLC25A46):c.19G>A (p.Asp7Asn)
HGVS:
  • NC_000005.10:g.110739138G>A
  • NG_051334.1:g.6003G>A
  • NM_001303249.3:c.19G>A
  • NM_001303250.3:c.10+891G>A
  • NM_138773.1:c.19G>A
  • NM_138773.4:c.19G>AMANE SELECT
  • NP_001290178.1:p.Asp7Asn
  • NP_620128.1:p.Asp7Asn
  • LRG_1091t1:c.19G>A
  • LRG_1091:g.6003G>A
  • LRG_1091p1:p.Asp7Asn
  • NC_000005.9:g.110074839G>A
  • NR_138151.2:n.132G>A
Protein change:
D7N
Links:
dbSNP: rs1295016936
NCBI 1000 Genomes Browser:
rs1295016936
Molecular consequence:
  • NM_001303250.3:c.10+891G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001303249.3:c.19G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138773.4:c.19G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_138151.2:n.132G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005164688Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 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, SCV005164688.1

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

Description

The c.19G>A (p.D7N) alteration is located in exon 1 (coding exon 1) of the SLC25A46 gene. This alteration results from a G to A substitution at nucleotide position 19, causing the aspartic acid (D) at amino acid position 7 to be replaced by an asparagine (N). 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: Sep 29, 2024