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NM_014963.3(SBNO2):c.3829C>T (p.Pro1277Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 24, 2024
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:
RCV004210425.2

Allele description [Variation Report for NM_014963.3(SBNO2):c.3829C>T (p.Pro1277Ser)]

NM_014963.3(SBNO2):c.3829C>T (p.Pro1277Ser)

Gene:
SBNO2:strawberry notch homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_014963.3(SBNO2):c.3829C>T (p.Pro1277Ser)
HGVS:
  • NC_000019.10:g.1108492G>A
  • NG_050621.1:g.9567G>A
  • NM_001100122.2:c.3658C>T
  • NM_014963.3:c.3829C>TMANE SELECT
  • NP_001093592.1:p.Pro1220Ser
  • NP_055778.2:p.Pro1277Ser
  • NC_000019.9:g.1108491G>A
  • NM_014963.2:c.3829C>T
Protein change:
P1220S
Molecular consequence:
  • NM_001100122.2:c.3658C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014963.3:c.3829C>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
SCV003712116Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 24, 2024) 		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, SCV003712116.3

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

Description

The c.3829C>T (p.P1277S) alteration is located in exon 32 (coding exon 31) of the SBNO2 gene. This alteration results from a C to T substitution at nucleotide position 3829, causing the proline (P) at amino acid position 1277 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