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NM_015174.2(ZFR2):c.198G>T (p.Gln66His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 12, 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:
RCV004200895.1

Allele description [Variation Report for NM_015174.2(ZFR2):c.198G>T (p.Gln66His)]

NM_015174.2(ZFR2):c.198G>T (p.Gln66His)

Gene:
ZFR2:zinc finger RNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_015174.2(ZFR2):c.198G>T (p.Gln66His)
HGVS:
  • NC_000019.10:g.3834839C>A
  • NM_015174.2:c.198G>TMANE SELECT
  • NP_055989.1:p.Gln66His
  • NC_000019.9:g.3834837C>A
  • NM_015174.1:c.198G>T
Protein change:
Q66H
Molecular consequence:
  • NM_015174.2:c.198G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003697224Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 12, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003697224.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.198G>T (p.Q66H) alteration is located in exon 2 (coding exon 2) of the ZFR2 gene. This alteration results from a G to T substitution at nucleotide position 198, causing the glutamine (Q) at amino acid position 66 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024