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NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2017
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:
RCV000626992.2

Allele description [Variation Report for NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)]

NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)

Gene:
SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)
HGVS:
  • NC_000015.10:g.34255390dup
  • NG_007951.1:g.87679dup
  • NM_001042494.2:c.575dup
  • NM_001042495.2:c.575dup
  • NM_001042496.2:c.725dup
  • NM_001042497.2:c.707dup
  • NM_001365088.1:c.752dupMANE SELECT
  • NM_005135.2:c.599dup
  • NM_133647.2:c.752dup
  • NP_001035959.1:p.Ser193fs
  • NP_001035960.1:p.Ser193fs
  • NP_001035961.1:p.Ser243fs
  • NP_001035962.1:p.Ser237fs
  • NP_001352017.1:p.Ser252fs
  • NP_005126.1:p.Ser201fs
  • NP_598408.1:p.Ser252fs
  • LRG_270t1:c.599dup
  • LRG_270:g.87679dup
  • LRG_270p1:p.Ser201fs
  • NC_000015.9:g.34547586_34547587insC
  • NC_000015.9:g.34547591dup
  • NM_133647.1:c.752dupG
Protein change:
S193fs
Links:
dbSNP: rs1555380716
NCBI 1000 Genomes Browser:
rs1555380716
Molecular consequence:
  • NM_001042494.2:c.575dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042495.2:c.575dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042496.2:c.725dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042497.2:c.707dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001365088.1:c.752dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005135.2:c.599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_133647.2:c.752dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hypertelorism
Identifiers:
MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
Name:
Corpus callosum, agenesis of
Synonyms:
Corpus callosum agenesis; Mental retardation hypoplastic corpus callosum preauricular tag; Da silva syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009022; MedGen: C0175754; Orphanet: 200; OMIM: 217990; Human Phenotype Ontology: HP:0001274
Name:
Low-set ears
Identifiers:
MedGen: C0239234; Human Phenotype Ontology: HP:0000369
Name:
Abnormal facial shape
Synonyms:
Dysmorphic facies; Dysmorphic facial features
Identifiers:
MedGen: C0424503; Human Phenotype Ontology: HP:0001999
Name:
Clinodactyly of the 5th finger
Identifiers:
MedGen: C1850049; Human Phenotype Ontology: HP:0004209

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747695Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747695.1

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

Last Updated: Feb 28, 2024