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NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) AND TMEM67-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 12, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004732951.1

Allele description [Variation Report for NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)]

NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)

Gene:
TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.1
Genomic location:
Preferred name:
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)
HGVS:
  • NC_000008.11:g.93797379C>T
  • NG_009190.1:g.47536C>T
  • NM_001142301.1:c.1766C>T
  • NM_153704.6:c.2009C>TMANE SELECT
  • NP_001135773.1:p.Thr589Ile
  • NP_714915.3:p.Thr670Ile
  • LRG_688t1:c.2009C>T
  • LRG_688t2:c.1766C>T
  • LRG_688:g.47536C>T
  • LRG_688p2:p.Thr589Ile
  • NC_000008.10:g.94809607C>T
  • NM_153704.5:c.2009C>T
  • NR_024522.2:n.2030C>T
Protein change:
T589I
Links:
dbSNP: rs370004832
NCBI 1000 Genomes Browser:
rs370004832
Molecular consequence:
  • NM_001142301.1:c.1766C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153704.6:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024522.2:n.2030C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
TMEM67-related disorder
Synonyms:
TMEM67-Related Disorders; TMEM67-related condition
Identifiers:
MedGen: CN239423

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005352289PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Sep 12, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005352289.1

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

Description

The TMEM67 c.2009C>T variant is predicted to result in the amino acid substitution p.Thr670Ile. This variant has been reported in an individual with Senior-Loken syndrome (Otto et al. 2010. PubMed ID: 21068128). This variant is reported in 0.078% of alleles in individuals of South Asian descent in gnomAD, which may be too common to be causative. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024