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NM_005842.4(SPRY2):c.274C>T (p.Pro92Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 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:
RCV004465298.1

Allele description [Variation Report for NM_005842.4(SPRY2):c.274C>T (p.Pro92Ser)]

NM_005842.4(SPRY2):c.274C>T (p.Pro92Ser)

Gene:
SPRY2:sprouty RTK signaling antagonist 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q31.1
Genomic location:
Preferred name:
NM_005842.4(SPRY2):c.274C>T (p.Pro92Ser)
HGVS:
  • NC_000013.11:g.80337432G>A
  • NG_050650.1:g.8684C>T
  • NM_001318536.1:c.274C>T
  • NM_001318537.1:c.274C>T
  • NM_001318538.1:c.274C>T
  • NM_005842.4:c.274C>TMANE SELECT
  • NP_001305465.1:p.Pro92Ser
  • NP_001305466.1:p.Pro92Ser
  • NP_001305467.1:p.Pro92Ser
  • NP_005833.1:p.Pro92Ser
  • NC_000013.10:g.80911567G>A
  • NM_005842.2:c.274C>T
Protein change:
P92S
Molecular consequence:
  • NM_001318536.1:c.274C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318537.1:c.274C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318538.1:c.274C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005842.4:c.274C>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
SCV004956703Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 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, SCV004956703.1

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

Description

The c.274C>T (p.P92S) alteration is located in exon 2 (coding exon 1) of the SPRY2 gene. This alteration results from a C to T substitution at nucleotide position 274, causing the proline (P) at amino acid position 92 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: May 7, 2024