NM_175875.5(SIX5):c.1261G>A (p.Val421Ile) AND Branchiootorenal syndrome 2

Germline classification:: Uncertain significance (1 submission)
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:: RCV000416581.1

Allele description [Variation Report for NM_175875.5(SIX5):c.1261G>A (p.Val421Ile)]

NM_175875.5(SIX5):c.1261G>A (p.Val421Ile)

Gene:

SIX5:SIX homeobox 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_175875.5(SIX5):c.1261G>A (p.Val421Ile)

HGVS:

NC_000019.10:g.45766698C>T
NG_012745.1:g.7542G>A
NG_046372.1:g.6C>T
NM_175875.5:c.1261G>AMANE SELECT
NP_787071.3:p.Val421Ile
NC_000019.9:g.46269956C>T
NM_175875.4:c.1261G>A

Protein change:

V421I

Links:

dbSNP: rs1057519372

NCBI 1000 Genomes Browser:

rs1057519372

Molecular consequence:

NM_175875.5:c.1261G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Branchiootorenal syndrome 2 (BOR2)
Identifiers:: MONDO: MONDO:0012575; MedGen: C1970479; Orphanet: 107; OMIM: 610896

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000265651	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Bekheirnia et al. (Genet Med. 2016))	Uncertain significance	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000265651

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Bekheirnia et al. (Genet Med. 2016))

Uncertain significance

unknown

research

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	yes	1	1	not provided	not provided	yes	research

Citations

PubMed

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, et al.

Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.

PubMed [citation]

PMID:: 27657687
PMCID:: PMC5362362

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000265651.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	research	PubMed (1)

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

Last Updated: Apr 23, 2022

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