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NM_004819.3(SYMPK):c.2731A>G (p.Ile911Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 26, 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:
RCV004348886.1

Allele description [Variation Report for NM_004819.3(SYMPK):c.2731A>G (p.Ile911Val)]

NM_004819.3(SYMPK):c.2731A>G (p.Ile911Val)

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.2731A>G (p.Ile911Val)
HGVS:
  • NC_000019.10:g.45822816T>C
  • NM_004819.3:c.2731A>GMANE SELECT
  • NP_004810.2:p.Ile911Val
  • NC_000019.9:g.46326074T>C
  • NM_004819.2:c.2731A>G
Protein change:
I911V
Molecular consequence:
  • NM_004819.3:c.2731A>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
SCV004072003Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 26, 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, SCV004072003.2

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

Description

The c.2731A>G (p.I911V) alteration is located in exon 21 (coding exon 20) of the SYMPK gene. This alteration results from a A to G substitution at nucleotide position 2731, causing the isoleucine (I) at amino acid position 911 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