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NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn) AND Neurodevelopmental disorder with microcephaly and movement abnormalities

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 21, 2023
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:
RCV003315426.1

Allele description [Variation Report for NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn)]

NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn)

Gene:
TTI1:TELO2 interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.23
Genomic location:
Preferred name:
NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn)
HGVS:
  • NC_000020.11:g.37999220C>T
  • NM_001303457.2:c.2761G>AMANE SELECT
  • NM_014657.3:c.2761G>A
  • NP_001290386.1:p.Asp921Asn
  • NP_055472.1:p.Asp921Asn
  • NC_000020.10:g.36627622C>T
  • NM_014657.2:c.2761G>A
Protein change:
D921N; ASP921ASN
Links:
OMIM: 614425.0005; dbSNP: rs375131638
NCBI 1000 Genomes Browser:
rs375131638
Molecular consequence:
  • NM_001303457.2:c.2761G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014657.3:c.2761G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental disorder with microcephaly and movement abnormalities (NEDMIM)
Identifiers:
MONDO: MONDO:0957531; MedGen: C5830624; OMIM: 620445

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004015147OMIM
no assertion criteria provided
Pathogenic
(Jul 21, 2023) 		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

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, et al.

Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31.

PubMed [citation]
PMID:
36724785
PMCID:
PMC10027477

Details of each submission

From OMIM, SCV004015147.1

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

Description

In 2 sibs, born of consanguineous Turkish parents (family 5), with neurodevelopmental disorder with microcephaly and movement abnormalities (NEDMIM; 620445), Serey-Gaut et al. (2023) identified a homozygous c.2761G-A transition (c.2761G-A, NM_001303457.2) in the TTI1 gene, resulting in an asp921-to-asn (D921N) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was not present in the gnomAD database.

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

Last Updated: Dec 2, 2023