NM_001031721.4(ZNF613):c.673G>A (p.Val225Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 7, 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:: RCV004217264.1

Allele description [Variation Report for NM_001031721.4(ZNF613):c.673G>A (p.Val225Ile)]

NM_001031721.4(ZNF613):c.673G>A (p.Val225Ile)

Gene:

ZNF613:zinc finger protein 613 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

Preferred name:

NM_001031721.4(ZNF613):c.673G>A (p.Val225Ile)

HGVS:

NC_000019.10:g.51944556G>A
NM_001031721.4:c.673G>AMANE SELECT
NM_024840.4:c.565G>A
NP_001026891.2:p.Val225Ile
NP_079116.2:p.Val189Ile
NC_000019.9:g.52447809G>A
NM_001031721.3:c.673G>A

Protein change:

V189I

Molecular consequence:

NM_001031721.4:c.673G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024840.4:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Homo sapiens RNA binding motif protein 44 (RBM44), transcript variant...
PREDICTED: Homo sapiens RNA binding motif protein 44 (RBM44), transcript variant X4, mRNA
gi|2217327806|ref|XM_005246075.2|

Nucleotide
Thorea riekei isolate TX_4 large subunit ribosomal RNA gene, partial sequence
Thorea riekei isolate TX_4 large subunit ribosomal RNA gene, partial sequence
gi|1281520507|gb|KX958133.1|

Nucleotide
Homo sapiens eukaryotic translation initiation factor 4 gamma 3 (EIF4G3), transc...
Homo sapiens eukaryotic translation initiation factor 4 gamma 3 (EIF4G3), transcript variant 3, mRNA
gi|311771747|ref|NM_003760.4|

Nucleotide
ankyrin repeat and SOCS box protein 8 isoform a [Homo sapiens]
ankyrin repeat and SOCS box protein 8 isoform a [Homo sapiens]
gi|985482043|ref|NP_001306225.1|

Protein
glutaminyl-peptide cyclotransferase-like protein isoform 1 [Homo sapiens]
glutaminyl-peptide cyclotransferase-like protein isoform 1 [Homo sapiens]
gi|92110027|ref|NP_060129.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003730680	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003730680

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 7, 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, SCV003730680.2

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

Description

The c.673G>A (p.V225I) alteration is located in exon 6 (coding exon 4) of the ZNF613 gene. This alteration results from a G to A substitution at nucleotide position 673, causing the valine (V) at amino acid position 225 to be replaced by an isoleucine (I). 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 10, 2024

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