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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000763609.2

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:
COACH syndrome 1
Identifiers:
MONDO: MONDO:0800103; MedGen: C5435651; Orphanet: 1454; OMIM: 216360
Name:
Joubert syndrome 6 (JBTS6)
Identifiers:
MONDO: MONDO:0012539; MedGen: C1853153; Orphanet: 475; OMIM: 610688
Name:
Meckel syndrome, type 3 (MKS3)
Synonyms:
MECKEL-GRUBER SYNDROME, TYPE 3
Identifiers:
MONDO: MONDO:0011821; MedGen: C1846357; Orphanet: 564; OMIM: 607361
Name:
Bardet-Biedl syndrome 14 (BBS14)
Identifiers:
MONDO: MONDO:0014442; MedGen: C2673874; Orphanet: 110; OMIM: 615991
Name:
Nephronophthisis 11 (NPHP11)
Identifiers:
MONDO: MONDO:0013302; MedGen: C3150796; Orphanet: 84081; OMIM: 613550

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000894455Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 31, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot 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
PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000894455.1

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

Last Updated: Oct 8, 2024