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NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483603.1

Allele description [Variation Report for NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)]

NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)

Gene:
KIF7:kinesin family member 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
HGVS:
  • NC_000015.10:g.89648521C>A
  • NG_030338.1:g.11931G>T
  • NM_198525.3:c.1177G>TMANE SELECT
  • NP_940927.2:p.Gly393Cys
  • NC_000015.9:g.90191752C>A
  • NM_198525.2:c.1177G>T
Protein change:
G393C
Links:
dbSNP: rs553968087
NCBI 1000 Genomes Browser:
rs553968087
Molecular consequence:
  • NM_198525.3:c.1177G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acrocallosal syndrome (ACLS)
Synonyms:
HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM; Acrocallosal syndrome, Schinzel type; Schinzel syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008708; MedGen: C0796147; Orphanet: 36; OMIM: 200990
Name:
Hydrolethalus syndrome (HLS)
Identifiers:
MONDO: MONDO:0006037; MedGen: C2931104; OMIM: PS236680

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228932GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228932.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 02-25-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024