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NM_004819.3(SYMPK):c.3488G>T (p.Gly1163Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 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:
RCV004274863.1

Allele description [Variation Report for NM_004819.3(SYMPK):c.3488G>T (p.Gly1163Val)]

NM_004819.3(SYMPK):c.3488G>T (p.Gly1163Val)

Gene:
SYMPK:symplekin scaffold protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_004819.3(SYMPK):c.3488G>T (p.Gly1163Val)
HGVS:
  • NC_000019.10:g.45816050C>A
  • NM_004819.3:c.3488G>TMANE SELECT
  • NP_004810.2:p.Gly1163Val
  • NC_000019.9:g.46319308C>A
  • NM_004819.2:c.3488G>T
Protein change:
G1163V
Molecular consequence:
  • NM_004819.3:c.3488G>T - 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
SCV003895388Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 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, SCV003895388.2

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

Description

The c.3488G>T (p.G1163V) alteration is located in exon 26 (coding exon 25) of the SYMPK gene. This alteration results from a G to T substitution at nucleotide position 3488, causing the glycine (G) at amino acid position 1163 to be replaced by a valine (V). 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 10, 2024