NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) AND Meckel syndrome, type 3

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 1, 2019
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:: RCV001165120.5

Allele description [Variation Report for NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)]

NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)

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.653G>C (p.Gly218Ala)

HGVS:

NC_000008.11:g.93772590G>C
NG_009190.1:g.22747G>C
NM_001142301.1:c.410G>C
NM_153704.6:c.653G>CMANE SELECT
NP_001135773.1:p.Gly137Ala
NP_714915.3:p.Gly218Ala
NP_714915.3:p.Gly218Ala
LRG_688t1:c.653G>C
LRG_688t2:c.410G>C
LRG_688:g.22747G>C
LRG_688p1:p.Gly218Ala
LRG_688p2:p.Gly137Ala
NC_000008.10:g.94784818G>C
NM_153704.5:c.653G>C
NM_153704.6:c.653G>C
NR_024522.2:n.674G>C

Protein change:

G137A

Links:

dbSNP: rs202036490

NCBI 1000 Genomes Browser:

rs202036490

Molecular consequence:

NM_001142301.1:c.410G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153704.6:c.653G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_024522.2:n.674G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Meckel syndrome, type 3 (MKS3)
Synonyms:: MECKEL-GRUBER SYNDROME, TYPE 3
Identifiers:: MONDO: MONDO:0011821; MedGen: C1846357; Orphanet: 564; OMIM: 607361

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001327289	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	Citation Link,
SCV001440695	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 1, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001327289

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 28, 2017)

germline

clinical testing

Citation Link,

SCV001440695

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 1, 2019)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	no	not provided	not provided	not provided	not provided	not provided	clinical 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 Illumina Laboratory Services, Illumina, SCV001327289.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001440695.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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