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NM_031448.6(C19orf12):c.161G>T (p.Gly54Val) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000454138.2

Allele description [Variation Report for NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)]

NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)

Gene:
C19orf12:chromosome 19 open reading frame 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q12
Genomic location:
Preferred name:
NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)
HGVS:
  • NC_000019.10:g.29702977C>A
  • NG_031970.2:g.17813G>T
  • NM_001031726.4:c.161G>T
  • NM_001256046.3:c.161G>T
  • NM_001256047.2:c.161G>T
  • NM_001282929.1:c.-32G>T
  • NM_001282930.3:c.-32G>T
  • NM_001282931.3:c.-32G>T
  • NM_031448.6:c.161G>TMANE SELECT
  • NP_001026896.2:p.Gly65Val
  • NP_001026896.3:p.Gly54Val
  • NP_001242975.1:p.Gly54Val
  • NP_001242976.1:p.Gly54Val
  • NP_113636.2:p.Gly54Val
  • NC_000019.9:g.30193884C>A
  • NM_001031726.3:c.194G>T
  • NM_031448.4:c.161G>T
Protein change:
G54V
Links:
dbSNP: rs752450983
NCBI 1000 Genomes Browser:
rs752450983
Molecular consequence:
  • NM_001282929.1:c.-32G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282930.3:c.-32G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282931.3:c.-32G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001031726.4:c.161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256046.3:c.161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256047.2:c.161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031448.6:c.161G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000537960Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(Karaca et al. (Neuron 2015))		Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, et al.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

PubMed [citation]
PMID:
26539891
PMCID:
PMC4824012

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000537960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024