NM_001177701.3(IFT27):c.136G>T (p.Val46Leu) AND Bardet-Biedl syndrome 19

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 20, 2024
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:: RCV004728971.1

Allele description [Variation Report for NM_001177701.3(IFT27):c.136G>T (p.Val46Leu)]

NM_001177701.3(IFT27):c.136G>T (p.Val46Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

Preferred name:

NM_001177701.3(IFT27):c.136G>T (p.Val46Leu)

HGVS:

NC_000022.11:g.36767344C>A
NG_034205.1:g.13790G>T
NM_001177701.3:c.136G>TMANE SELECT
NM_001363003.2:c.136G>T
NM_006860.5:c.133G>T
NP_001171172.1:p.Val46Leu
NP_001349932.1:p.Val46Leu
NP_006851.1:p.Val45Leu
NC_000022.10:g.37163388C>A

Protein change:

V45L

Links:

dbSNP: rs376189927

NCBI 1000 Genomes Browser:

rs376189927

Molecular consequence:

NM_001177701.3:c.136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001363003.2:c.136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_006860.5:c.133G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bardet-Biedl syndrome 19 (BBS19)
Identifiers:: MONDO: MONDO:0014447; MedGen: C3889475; Orphanet: 110; OMIM: 615996

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005328675	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Sep 20, 2024)	germline	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

SCV005328675

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Sep 20, 2024)

germline

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	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From 3billion, SCV005328675.1

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

Description

The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine