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NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys) AND Alkuraya-Kucinskas syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 11, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000576898.1

Allele description [Variation Report for NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys)]

NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys)

Gene:
BLTP1:bridge-like lipid transfer protein family member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q27
Genomic location:
Preferred name:
NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys)
Other names:
KIAA1109, TYR1329CYS (rs770791100)
HGVS:
  • NC_000004.12:g.122239668A>G
  • NG_015813.2:g.74066A>G
  • NM_001384125.1:c.3986A>GMANE SELECT
  • NM_015312.4:c.3986A>G
  • NP_001371054.1:p.Tyr1329Cys
  • NP_056127.2:p.Tyr1329Cys
  • NP_056127.2:p.Tyr1329Cys
  • NC_000004.11:g.123160823A>G
  • NM_015312.3:c.3986A>G
Protein change:
Y1329C; TYR1329CYS
Links:
OMIM: 611565.0002; dbSNP: rs770791100
NCBI 1000 Genomes Browser:
rs770791100
Molecular consequence:
  • NM_001384125.1:c.3986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015312.4:c.3986A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alkuraya-Kucinskas syndrome
Identifiers:
MONDO: MONDO:0060631; MedGen: C4693347; OMIM: 617822

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000678300OMIM
no assertion criteria provided
Pathogenic
(Jan 11, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, et al.

Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28.

PubMed [citation]
PMID:
29290337
PMCID:
PMC5777449

Details of each submission

From OMIM, SCV000678300.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 sibs, born of unrelated Lithuanian parents (family LT) with Alkuraya-Kucinskas syndrome (ALKKUCS; 617822), Gueneau et al. (2018) identified compound heterozygous missense mutations in the KIAA1109 gene: a c.3986A-G transition (c.3986A-G, NM_015312.3), resulting in a tyr1329-to-cys (Y1329C) substitution, and a c.5599G-A transition, resulting in a val1867-to-met (V1867M; 611565.0003) substitution. Both mutations occurred at highly conserved residues. The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The Y1329C variant was found in dbSNP (build 147) and at a very low frequency in the ExAC database, but V1867M was not found in either of those databases. Functional studies of the variants and studies of patient cells were not performed. The c.3986A-G transition was referred to as c.3986A-C in Figure 2 of the report and in supplementary information.

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

Last Updated: Jun 3, 2022