NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) AND Meckel syndrome, type 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 18, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003997037.1

Allele description [Variation Report for NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)]

NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)

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.1321C>T (p.Arg441Cys)

HGVS:

NC_000008.11:g.93786255C>T
NG_009190.1:g.36412C>T
NM_001142301.1:c.1078C>T
NM_153704.6:c.1321C>TMANE SELECT
NP_001135773.1:p.Arg360Cys
NP_714915.3:p.Arg441Cys
NP_714915.3:p.Arg441Cys
LRG_688t1:c.1321C>T
LRG_688t2:c.1078C>T
LRG_688:g.36412C>T
LRG_688p1:p.Arg441Cys
LRG_688p2:p.Arg360Cys
NC_000008.10:g.94798483C>T
NM_153704.5:c.1321C>T
NR_024522.2:n.1342C>T
Q5HYA8:p.Arg441Cys

Protein change:

R360C

Links:

UniProtKB: Q5HYA8#VAR_063794; dbSNP: rs752362727

NCBI 1000 Genomes Browser:

rs752362727

Molecular consequence:

NM_001142301.1:c.1078C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_153704.6:c.1321C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_024522.2:n.1342C>T - 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
SCV004847172	Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 18, 2021)	maternal	clinical testing	PubMed (4) [See all records that cite these PMIDs] 30029678, 26092869, 19574260, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004847172

Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 18, 2021)

maternal

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Zhu N, Welch CL, Wang J, Allen PM, Gonzaga-Jauregui C, Ma L, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Pauciulo MW, Lutz KA, Nichols WC, Reid JG, Overton JD, Baras A, Dewey FE, Shen Y, Chung WK.

Genome Med. 2018 Jul 20;10(1):56. doi: 10.1186/s13073-018-0566-x.

PubMed [citation]

PMID:: 30029678
PMCID:: PMC6054746

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, et al.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

PubMed [citation]

PMID:: 26092869
PMCID:: PMC5082428

See all PubMed Citations (4)

Details of each submission

From Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province, SCV004847172.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Jan 13, 2025

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