NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 21, 2022
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:: RCV002504294.1

Allele description [Variation Report for NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met)]

NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met)

Gene:

IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met)

HGVS:

NC_000016.10:g.1518355G>A
NG_032783.1:g.98754C>T
NM_014714.4:c.4043C>TMANE SELECT
NP_055529.2:p.Thr1348Met
NC_000016.9:g.1568356G>A
NM_014714.3:c.4043C>T

Protein change:

T1348M

Links:

dbSNP: rs557586568

NCBI 1000 Genomes Browser:

rs557586568

Molecular consequence:

NM_014714.4:c.4043C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Saldino-Mainzer syndrome (SRTD9)
Synonyms:: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; Conorenal syndrome; SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009964; MedGen: C1849437; Orphanet: 140969; OMIM: 266920

Name:: Retinitis pigmentosa 80 (RP80)
Identifiers:: MONDO: MONDO:0054708; MedGen: C4540439; OMIM: 617781

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002814740	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 21, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002814740

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 21, 2022)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Fulgent Genetics, Fulgent Genetics, SCV002814740.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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