NM_001142301.1(TMEM67):c.107C>T (p.Pro36Leu) AND not provided

Clinical significance:Benign (Last evaluated: Jun 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000834521.2

Allele description [Variation Report for NM_001142301.1(TMEM67):c.107C>T (p.Pro36Leu)]

NM_001142301.1(TMEM67):c.107C>T (p.Pro36Leu)

Gene:
TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.1
Genomic location:
Preferred name:
NM_001142301.1(TMEM67):c.107C>T (p.Pro36Leu)
HGVS:
  • NC_000008.11:g.93759937C>T
  • NG_009190.1:g.10094C>T
  • NM_001142301.1:c.107C>T
  • NM_153704.5:c.406+1361C>T
  • NP_001135773.1:p.Pro36Leu
  • LRG_688t1:c.406+1361C>T
  • LRG_688t2:c.107C>T
  • LRG_688:g.10094C>T
  • LRG_688p2:p.Pro36Leu
  • NC_000008.10:g.94772165C>T
Protein change:
P36L
Links:
dbSNP: rs73324992
NCBI 1000 Genomes Browser:
rs73324992
Molecular consequence:
  • NM_153704.5:c.406+1361C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142301.1:c.107C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000976290GeneDxcriteria provided, single submitter
Benign
(Jun 16, 2018)
germlineclinical testing

Citation Link,

SCV001797476Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000976290.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001797476.1

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

Last Updated: Aug 25, 2021

Support Center