NM_003430.4(ZNF91):c.718T>C (p.Cys240Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 26, 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:: RCV004077800.1

Allele description [Variation Report for NM_003430.4(ZNF91):c.718T>C (p.Cys240Arg)]

NM_003430.4(ZNF91):c.718T>C (p.Cys240Arg)

Gene:

ZNF91:zinc finger protein 91 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p12

Genomic location:

Preferred name:

NM_003430.4(ZNF91):c.718T>C (p.Cys240Arg)

HGVS:

NC_000019.10:g.23362261A>G
NM_001300951.2:c.622T>C
NM_003430.4:c.718T>CMANE SELECT
NP_001287880.1:p.Cys208Arg
NP_003421.2:p.Cys240Arg
NC_000019.9:g.23545063A>G
NM_003430.2:c.718T>C

Protein change:

C208R

Molecular consequence:

NM_001300951.2:c.622T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003430.4:c.718T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Campyloneurum angustifolium[All Fields] AND 1[s_discriminator] (0)
dbGaP
tumor susceptibility gene 101 protein isoform X4 [Rattus norvegicus]
tumor susceptibility gene 101 protein isoform X4 [Rattus norvegicus]
gi|1958643663|ref|XP_038961054.1|

Protein
Citrobacter freundii strain BC-3 17057_contig_104, whole genome shotgun sequence
Citrobacter freundii strain BC-3 17057_contig_104, whole genome shotgun sequence
gi|2261819455|ref|NZ_JAMXKO01000010 gnl|WGS:NZ_JAMXKO01|17057_contig_104

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003541352	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 26, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003541352

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 26, 2022)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV003541352.2

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

Description

The c.718T>C (p.C240R) alteration is located in exon 4 (coding exon 4) of the ZNF91 gene. This alteration results from a T to C substitution at nucleotide position 718, causing the cysteine (C) at amino acid position 240 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 3, 2024

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