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NM_207346.3(TSEN54):c.766G>A (p.Gly256Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 2021
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:
RCV002568245.2

Allele description [Variation Report for NM_207346.3(TSEN54):c.766G>A (p.Gly256Ser)]

NM_207346.3(TSEN54):c.766G>A (p.Gly256Ser)

Gene:
TSEN54:tRNA splicing endonuclease subunit 54 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_207346.3(TSEN54):c.766G>A (p.Gly256Ser)
HGVS:
  • NC_000017.11:g.75521847G>A
  • NG_013041.1:g.10320G>A
  • NM_207346.3:c.766G>AMANE SELECT
  • NP_997229.2:p.Gly256Ser
  • NC_000017.10:g.73517928G>A
  • NM_207346.2:c.766G>A
Protein change:
G256S
Links:
dbSNP: rs200015685
NCBI 1000 Genomes Browser:
rs200015685
Molecular consequence:
  • NM_207346.3:c.766G>A - 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
SCV003685943Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 1, 2021) 		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, SCV003685943.2

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

Description

The c.766G>A (p.G256S) alteration is located in exon 8 (coding exon 8) of the TSEN54 gene. This alteration results from a G to A substitution at nucleotide position 766, causing the glycine (G) at amino acid position 256 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: Sep 29, 2024