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NM_001037984.3(SLC38A10):c.1124C>G (p.Ser375Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 27, 2022
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:
RCV004227009.1

Allele description [Variation Report for NM_001037984.3(SLC38A10):c.1124C>G (p.Ser375Cys)]

NM_001037984.3(SLC38A10):c.1124C>G (p.Ser375Cys)

Gene:
SLC38A10:solute carrier family 38 member 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001037984.3(SLC38A10):c.1124C>G (p.Ser375Cys)
HGVS:
  • NC_000017.11:g.81270925G>C
  • NM_001037984.3:c.1124C>GMANE SELECT
  • NM_138570.4:c.1124C>G
  • NP_001033073.1:p.Ser375Cys
  • NP_612637.1:p.Ser375Cys
  • NC_000017.10:g.79244725G>C
  • NM_001037984.1:c.1124C>G
Protein change:
S375C
Molecular consequence:
  • NM_001037984.3:c.1124C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138570.4:c.1124C>G - 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
SCV003726425Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 27, 2022) 		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, SCV003726425.2

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

Description

The c.1124C>G (p.S375C) alteration is located in exon 10 (coding exon 10) of the SLC38A10 gene. This alteration results from a C to G substitution at nucleotide position 1124, causing the serine (S) at amino acid position 375 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: Oct 26, 2024