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NM_182556.4(SLC25A45):c.562C>T (p.Leu188Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 7, 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:
RCV004266203.1

Allele description [Variation Report for NM_182556.4(SLC25A45):c.562C>T (p.Leu188Phe)]

NM_182556.4(SLC25A45):c.562C>T (p.Leu188Phe)

Genes:
FRMD8:FERM domain containing 8 [Gene - OMIM - HGNC]
SLC25A45:solute carrier family 25 member 45 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_182556.4(SLC25A45):c.562C>T (p.Leu188Phe)
HGVS:
  • NC_000011.10:g.65376854G>A
  • NG_122923.1:g.330G>A
  • NM_001077241.3:c.436C>T
  • NM_001278250.3:c.490C>T
  • NM_001278251.3:c.436C>T
  • NM_001300820.2:c.376C>T
  • NM_001352381.2:c.562C>T
  • NM_001352382.2:c.436C>T
  • NM_001352383.2:c.250C>T
  • NM_001352384.2:c.250C>T
  • NM_182556.4:c.562C>TMANE SELECT
  • NP_001070709.3:p.Leu146Phe
  • NP_001265179.3:p.Leu164Phe
  • NP_001265180.3:p.Leu146Phe
  • NP_001287749.2:p.Leu126Phe
  • NP_001339310.2:p.Leu188Phe
  • NP_001339311.2:p.Leu146Phe
  • NP_001339312.2:p.Leu84Phe
  • NP_001339313.2:p.Leu84Phe
  • NP_872362.4:p.Leu188Phe
  • NC_000011.9:g.65144325G>A
  • NM_182556.2:c.562C>T
  • NR_147972.2:n.961C>T
  • NR_147973.2:n.872C>T
Protein change:
L126F
Molecular consequence:
  • NM_001077241.3:c.436C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278250.3:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278251.3:c.436C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300820.2:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352381.2:c.562C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352382.2:c.436C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352383.2:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352384.2:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182556.4:c.562C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147972.2:n.961C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147973.2:n.872C>T - 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
SCV003898923Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 7, 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, SCV003898923.2

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

Description

The c.562C>T (p.L188F) alteration is located in exon 6 (coding exon 5) of the SLC25A45 gene. This alteration results from a C to T substitution at nucleotide position 562, causing the leucine (L) at amino acid position 188 to be replaced by a phenylalanine (F). 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: Oct 26, 2024