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NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 14, 2019
Review status:
criteria provided, conflicting classifications
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:
RCV000290466.10

Allele description [Variation Report for NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)]

NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)

Gene:
TMEM237:transmembrane protein 237 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
HGVS:
  • NC_000002.12:g.201626095C>T
  • NG_032049.1:g.22435G>A
  • NM_001044385.3:c.1090G>AMANE SELECT
  • NM_152388.4:c.1066G>A
  • NP_001037850.1:p.Val364Met
  • NP_689601.2:p.Val356Met
  • NC_000002.11:g.202490818C>T
  • NM_001044385.2:c.1090G>A
Protein change:
V356M
Links:
dbSNP: rs138509553
NCBI 1000 Genomes Browser:
rs138509553
Molecular consequence:
  • NM_001044385.3:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152388.4:c.1066G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000340551Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Apr 5, 2016) 		germlineclinical testing

Citation Link,

SCV000968581GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(May 14, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000340551.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV000968581.2

#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: Oct 13, 2024