U.S. flag

An official website of the United States government

NM_001378183.1(PIEZO2):c.3249G>C (p.Arg1083Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 18, 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:
RCV003230812.1

Allele description [Variation Report for NM_001378183.1(PIEZO2):c.3249G>C (p.Arg1083Ser)]

NM_001378183.1(PIEZO2):c.3249G>C (p.Arg1083Ser)

Gene:
PIEZO2:piezo type mechanosensitive ion channel component 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.22
Genomic location:
Preferred name:
NM_001378183.1(PIEZO2):c.3249G>C (p.Arg1083Ser)
HGVS:
  • NC_000018.10:g.10762500C>G
  • NG_034005.1:g.391263G>C
  • NM_001378183.1:c.3249G>CMANE SELECT
  • NM_001410871.1:c.3249G>C
  • NM_022068.3:c.3174G>C
  • NM_022068.4:c.3174G>C
  • NP_001365112.1:p.Arg1083Ser
  • NP_001397800.1:p.Arg1083Ser
  • NP_071351.2:p.Arg1058Ser
  • NC_000018.9:g.10762498C>G
Protein change:
R1058S
Molecular consequence:
  • NM_001378183.1:c.3249G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410871.1:c.3249G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022068.4:c.3174G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003928536Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 18, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003928536.1

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

Description

Variant summary: FAM38B c.3174G>C (p.Arg1058Ser) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 144220 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3174G>C in individuals affected with FAM38B-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023