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NM_006946.4(SPTBN2):c.3748C>T (p.Arg1250Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 12, 2020
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:
RCV002536331.3

Allele description [Variation Report for NM_006946.4(SPTBN2):c.3748C>T (p.Arg1250Trp)]

NM_006946.4(SPTBN2):c.3748C>T (p.Arg1250Trp)

Gene:
SPTBN2:spectrin beta, non-erythrocytic 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_006946.4(SPTBN2):c.3748C>T (p.Arg1250Trp)
HGVS:
  • NC_000011.10:g.66699434G>A
  • NG_016150.2:g.34928C>T
  • NM_006946.2:c.3748C>T
  • NM_006946.4:c.3748C>TMANE SELECT
  • NP_008877.2:p.Arg1250Trp
  • NC_000011.9:g.66466905G>A
Protein change:
R1250W
Links:
dbSNP: rs766723349
NCBI 1000 Genomes Browser:
rs766723349
Molecular consequence:
  • NM_006946.4:c.3748C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003540733Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 12, 2020) 		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, SCV003540733.2

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

Description

The c.3748C>T (p.R1250W) alteration is located in exon 17 (coding exon 16) of the SPTBN2 gene. This alteration results from a C to T substitution at nucleotide position 3748, causing the arginine (R) at amino acid position 1250 to be replaced by a tryptophan (W). Based on data from the Genome Aggregation Database (gnomAD) database, the SPTBN2 c.3748C>T alteration was observed in 0.0032% (9/282,850) of total alleles studied, with a frequency of 0.01% (3/24,964) in the African subpopulation. This amino acid position is not well conserved in available vertebrate species. The p.R1250W alteration is predicted to be tolerated by in silico analysis. 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 12, 2024