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NM_018259.6(TTC17):c.790G>T (p.Ala264Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 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:
RCV004311500.1

Allele description [Variation Report for NM_018259.6(TTC17):c.790G>T (p.Ala264Ser)]

NM_018259.6(TTC17):c.790G>T (p.Ala264Ser)

Gene:
TTC17:tetratricopeptide repeat domain 17 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p12
Genomic location:
Preferred name:
NM_018259.6(TTC17):c.790G>T (p.Ala264Ser)
HGVS:
  • NC_000011.10:g.43397363G>T
  • NM_001307943.2:c.790G>T
  • NM_001376525.1:c.790G>T
  • NM_001376526.1:c.700G>T
  • NM_001376527.1:c.790G>T
  • NM_001376528.1:c.663+5411G>T
  • NM_018259.6:c.790G>TMANE SELECT
  • NP_001294872.1:p.Ala264Ser
  • NP_001363454.1:p.Ala264Ser
  • NP_001363455.1:p.Ala234Ser
  • NP_001363456.1:p.Ala264Ser
  • NP_060729.2:p.Ala264Ser
  • NC_000011.9:g.43418913G>T
  • NM_018259.5:c.790G>T
  • NR_164823.1:n.825G>T
  • NR_164824.1:n.825G>T
Protein change:
A234S
Molecular consequence:
  • NM_001376528.1:c.663+5411G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001307943.2:c.790G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376525.1:c.790G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376526.1:c.700G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376527.1:c.790G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018259.6:c.790G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164823.1:n.825G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164824.1:n.825G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003973591Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 19, 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, SCV003973591.2

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

Description

The c.790G>T (p.A264S) alteration is located in exon 7 (coding exon 7) of the TTC17 gene. This alteration results from a G to T substitution at nucleotide position 790, causing the alanine (A) at amino acid position 264 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