NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 28, 2016
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:: RCV000455390.4

Allele description [Variation Report for NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys)]

NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys)

Genes:

LOC130001238:ATAC-STARR-seq lymphoblastoid active region 28015 [Gene]
ZFAT:zinc finger and AT-hook domain containing [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.22

Genomic location:

Preferred name:

NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys)

HGVS:

NC_000008.11:g.134602310G>C
NG_016356.2:g.115740C>G
NM_001029939.4:c.1373C>G
NM_001167583.3:c.1373C>G
NM_001174157.2:c.1223C>G
NM_001174158.2:c.1373C>G
NM_001289394.2:c.1373C>G
NM_020863.4:c.1409C>GMANE SELECT
NP_001025110.2:p.Ser458Cys
NP_001161055.1:p.Ser458Cys
NP_001167628.1:p.Ser408Cys
NP_001167629.1:p.Ser458Cys
NP_001276323.1:p.Ser458Cys
NP_065914.2:p.Ser470Cys
NC_000008.10:g.135614553G>C
NG_016356.1:g.115740C>G
NM_001029939.3:c.1373C>G
NR_110323.2:n.1577C>G

Protein change:

S408C

Links:

dbSNP: rs112892337

NCBI 1000 Genomes Browser:

rs112892337

Molecular consequence:

NM_001029939.4:c.1373C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001167583.3:c.1373C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001174157.2:c.1223C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001174158.2:c.1373C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289394.2:c.1373C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_020863.4:c.1409C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_110323.2:n.1577C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000540693	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Mar 28, 2016)	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

SCV000540693

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Mar 28, 2016)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000540693.1

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

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Gene associated with autoimmune thyroid disease - protein involved in t cell homeostasis, however data is limited. Also, frequency is probably too high.

#	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: Jun 17, 2024

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