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NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jan 10, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001090385.25

Allele description [Variation Report for NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)]

NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)

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.725A>G (p.Asn242Ser)
HGVS:
  • NC_000008.11:g.93780603A>G
  • NG_009190.1:g.30760A>G
  • NM_001142301.1:c.482A>G
  • NM_153704.6:c.725A>GMANE SELECT
  • NP_001135773.1:p.Asn161Ser
  • NP_714915.3:p.Asn242Ser
  • NP_714915.3:p.Asn242Ser
  • LRG_688t1:c.725A>G
  • LRG_688t2:c.482A>G
  • LRG_688:g.30760A>G
  • LRG_688p1:p.Asn242Ser
  • LRG_688p2:p.Asn161Ser
  • NC_000008.10:g.94792831A>G
  • NM_153704.5:c.725A>G
  • NR_024522.2:n.746A>G
  • p.Asn242Ser
Protein change:
N161S
Links:
dbSNP: rs775883520
NCBI 1000 Genomes Browser:
rs775883520
Molecular consequence:
  • NM_001142301.1:c.482A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153704.6:c.725A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024522.2:n.746A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245912CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Oct 1, 2017) 		germlineclinical testing

Citation Link,

SCV001251690Genomic Research Center, Shahid Beheshti University of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 3, 2020) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002820536GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 10, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001245912.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV001251690.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV002820536.1

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26260382, 29302074, 25920555, 26092869, 30315573, 32000717, 33726816, 35032046, 28719906, 27491411)

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

Last Updated: Oct 20, 2024