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NM_152707.4(SLC25A16):c.872A>G (p.Tyr291Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 28, 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:
RCV004339423.1

Allele description [Variation Report for NM_152707.4(SLC25A16):c.872A>G (p.Tyr291Cys)]

NM_152707.4(SLC25A16):c.872A>G (p.Tyr291Cys)

Gene:
SLC25A16:solute carrier family 25 member 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_152707.4(SLC25A16):c.872A>G (p.Tyr291Cys)
HGVS:
  • NC_000010.11:g.68483559T>C
  • NG_046972.1:g.48965A>G
  • NM_001324312.2:c.900A>G
  • NM_001324314.2:c.578A>G
  • NM_001324315.1:c.578A>G
  • NM_001324317.2:c.470A>G
  • NM_152707.4:c.872A>GMANE SELECT
  • NP_001311241.1:p.Leu300=
  • NP_001311243.1:p.Tyr193Cys
  • NP_001311244.1:p.Tyr193Cys
  • NP_001311246.1:p.Tyr157Cys
  • NP_689920.1:p.Tyr291Cys
  • NC_000010.10:g.70243316T>C
  • NM_152707.3:c.872A>G
  • NR_136737.1:n.1755A>G
Protein change:
Y157C
Molecular consequence:
  • NM_001324314.2:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324315.1:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324317.2:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152707.4:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136737.1:n.1755A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001324312.2:c.900A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV004055628Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 28, 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, SCV004055628.2

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

Description

The c.872A>G (p.Y291C) alteration is located in exon 9 (coding exon 9) of the SLC25A16 gene. This alteration results from a A to G substitution at nucleotide position 872, causing the tyrosine (Y) at amino acid position 291 to be replaced by a cysteine (C). 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 3, 2024