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NM_019026.6(TMCO1):c.44C>T (p.Ser15Phe) AND Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 22, 2019
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:
RCV001095669.1

Allele description [Variation Report for NM_019026.6(TMCO1):c.44C>T (p.Ser15Phe)]

NM_019026.6(TMCO1):c.44C>T (p.Ser15Phe)

Gene:
TMCO1:transmembrane and coiled-coil domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.1
Genomic location:
Preferred name:
NM_019026.6(TMCO1):c.44C>T (p.Ser15Phe)
HGVS:
  • NC_000001.11:g.165768708G>A
  • NG_032004.1:g.5215C>T
  • NM_001256164.1:c.146+51C>T
  • NM_001256165.1:c.-193C>T
  • NM_019026.6:c.44C>TMANE SELECT
  • NP_061899.3:p.Ser15Phe
  • NC_000001.10:g.165737945G>A
  • NM_019026.4:c.197C>T
Protein change:
S15F
Links:
dbSNP: rs1652676730
NCBI 1000 Genomes Browser:
rs1652676730
Molecular consequence:
  • NM_001256165.1:c.-193C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001256164.1:c.146+51C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019026.6:c.44C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 (CFSMR1)
Synonyms:
Cerebrofaciothoracic dysplasia; Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Identifiers:
MONDO: MONDO:0800436; MedGen: C5677021; Orphanet: 1394; OMIM: 213980

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001251437Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 22, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001251437.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The variant was confirmed as compound heterozygous with a pathogenic variant (NM_019026.4: c.292_293del).

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

Last Updated: Aug 5, 2023