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NM_006762.3(LAPTM5):c.197G>C (p.Ser66Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 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:
RCV004410120.1

Allele description [Variation Report for NM_006762.3(LAPTM5):c.197G>C (p.Ser66Thr)]

NM_006762.3(LAPTM5):c.197G>C (p.Ser66Thr)

Gene:
LAPTM5:lysosomal protein transmembrane 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p35.2
Genomic location:
Preferred name:
NM_006762.3(LAPTM5):c.197G>C (p.Ser66Thr)
HGVS:
  • NC_000001.11:g.30741701C>G
  • NM_006762.3:c.197G>CMANE SELECT
  • NP_006753.1:p.Ser66Thr
  • NC_000001.10:g.31214548C>G
  • NM_006762.2:c.197G>C
Protein change:
S66T
Molecular consequence:
  • NM_006762.3:c.197G>C - 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
SCV004896126Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 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, SCV004896126.1

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

Description

The c.197G>C (p.S66T) alteration is located in exon 3 (coding exon 3) of the LAPTM5 gene. This alteration results from a G to C substitution at nucleotide position 197, causing the serine (S) at amino acid position 66 to be replaced by a threonine (T). 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: May 7, 2024