NM_001177701.3(IFT27):c.126_130del (p.Met42fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 29, 2023
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:: RCV003835177.2

Allele description [Variation Report for NM_001177701.3(IFT27):c.126_130del (p.Met42fs)]

NM_001177701.3(IFT27):c.126_130del (p.Met42fs)

Gene:

IFT27:intraflagellar transport 27 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q12.3

Genomic location:

Preferred name:

NM_001177701.3(IFT27):c.126_130del (p.Met42fs)

HGVS:

NC_000022.11:g.36767351_36767355del
NG_034205.1:g.13780_13784del
NM_001177701.3:c.126_130delMANE SELECT
NM_001363003.2:c.126_130del
NM_006860.5:c.123_127del
NP_001171172.1:p.Met42fs
NP_001349932.1:p.Met42fs
NP_006851.1:p.Met41fs
NC_000022.10:g.37163394_37163398del
NC_000022.10:g.37163395_37163399del

Protein change:

M41fs

Molecular consequence:

NM_001177701.3:c.126_130del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363003.2:c.126_130del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006860.5:c.123_127del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Tragopan temminckii haplotype H20 MHC class I antigen (BF) gene, partial cds
Tragopan temminckii haplotype H20 MHC class I antigen (BF) gene, partial cds
gi|1219689882|gb|KX649914.1|

Nucleotide
Petenia splendida bio-material YtanPetenia74 NADH dehydrogenase subunit 2 gene, ...
Petenia splendida bio-material YtanPetenia74 NADH dehydrogenase subunit 2 gene, complete cds; mitochondrial
gi|298353392|gb|GU946261.1|

Nucleotide
frpr-3 G-protein coupled receptors family 1 profile domain-containing protein [C...
frpr-3 G-protein coupled receptors family 1 profile domain-containing protein [Caenorhabditis elegans]
Gene ID:182942

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004641460	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 29, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24488770, 25446516, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004641460

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 29, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS.

Hum Mol Genet. 2014 Jun 15;23(12):3307-15. doi: 10.1093/hmg/ddu044. Epub 2014 Jan 31.

PubMed [citation]

PMID:: 24488770
PMCID:: PMC4047285

IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.

Eguether T, San Agustin JT, Keady BT, Jonassen JA, Liang Y, Francis R, Tobita K, Johnson CA, Abdelhamed ZA, Lo CW, Pazour GJ.

Dev Cell. 2014 Nov 10;31(3):279-290. doi: 10.1016/j.devcel.2014.09.011. Epub 2014 Oct 30.

PubMed [citation]

PMID:: 25446516
PMCID:: PMC4254547

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004641460.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Met41Ilefs*10) in the IFT27 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT27 are known to be pathogenic (PMID: 24488770, 25446516). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IFT27-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024

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