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NM_032635.4(TMEM147):c.31G>C (p.Ala11Pro) AND Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 23, 2023
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:
RCV003326313.2

Allele description [Variation Report for NM_032635.4(TMEM147):c.31G>C (p.Ala11Pro)]

NM_032635.4(TMEM147):c.31G>C (p.Ala11Pro)

Genes:
TMEM147-AS1:TMEM147 antisense RNA 1 [Gene - HGNC]
TMEM147:transmembrane protein 147 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_032635.4(TMEM147):c.31G>C (p.Ala11Pro)
HGVS:
  • NC_000019.10:g.35545770G>C
  • NG_046898.1:g.17359G>C
  • NG_141186.2:g.628G>C
  • NM_001242597.2:c.-188G>C
  • NM_001242598.2:c.31G>C
  • NM_032635.4:c.31G>CMANE SELECT
  • NP_001229527.1:p.Ala11Pro
  • NP_116024.1:p.Ala11Pro
  • NC_000019.9:g.36036672G>C
  • NG_141186.1:g.628G>C
Protein change:
A11P
Molecular consequence:
  • NM_001242597.2:c.-188G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001242598.2:c.31G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032635.4:c.31G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
Identifiers:
MONDO: MONDO:0859298; MedGen: C5774232; OMIM: 620075

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004032488Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 23, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn, SCV004032488.1

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

Last Updated: Sep 1, 2024