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NM_013318.4(PRRC2B):c.4348G>A (p.Gly1450Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 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:
RCV004299607.1

Allele description [Variation Report for NM_013318.4(PRRC2B):c.4348G>A (p.Gly1450Ser)]

NM_013318.4(PRRC2B):c.4348G>A (p.Gly1450Ser)

Gene:
PRRC2B:proline rich coiled-coil 2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_013318.4(PRRC2B):c.4348G>A (p.Gly1450Ser)
HGVS:
  • NC_000009.12:g.131476477G>A
  • NM_001384818.1:c.4348G>A
  • NM_001384821.1:c.4348G>A
  • NM_001384822.1:c.4348G>A
  • NM_001384823.1:c.2325-1267G>A
  • NM_013318.4:c.4348G>AMANE SELECT
  • NP_001371747.1:p.Gly1450Ser
  • NP_001371750.1:p.Gly1450Ser
  • NP_001371751.1:p.Gly1450Ser
  • NP_037450.2:p.Gly1450Ser
  • NC_000009.11:g.134351864G>A
  • NM_013318.3:c.4348G>A
Protein change:
G1450S
Molecular consequence:
  • NM_001384823.1:c.2325-1267G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384818.1:c.4348G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384821.1:c.4348G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384822.1:c.4348G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013318.4:c.4348G>A - 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
SCV003964921Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 29, 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, SCV003964921.2

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

Description

The c.4348G>A (p.G1450S) alteration is located in exon 15 (coding exon 15) of the PRRC2B gene. This alteration results from a G to A substitution at nucleotide position 4348, causing the glycine (G) at amino acid position 1450 to be replaced by a serine (S). 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