NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe) AND 46,XY sex reversal 9

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 3, 2023
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:: RCV003748835.2

Allele description [Variation Report for NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)]

NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)

Genes:

ZFPM2-AS1:ZFPM2 antisense RNA 1 [Gene - HGNC]
ZFPM2:zinc finger protein, FOG family member 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

8q23.1

Genomic location:

Preferred name:

NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)

HGVS:

NC_000008.11:g.105798882_105798884dup
NG_011723.2:g.484964_484966dup
NM_001362836.2:c.739_741dup
NM_001362837.2:c.502_504dup
NM_012082.4:c.898_900dupMANE SELECT
NP_001349765.1:p.Phe247_Pro248insPhe
NP_001349766.1:p.Phe168_Pro169insPhe
NP_036214.2:p.Phe300_Pro301insPhe
NC_000008.10:g.106811108_106811109insCTT
NC_000008.10:g.106811110_106811112dup

Molecular consequence:

NM_001362836.2:c.739_741dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001362837.2:c.502_504dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_012082.4:c.898_900dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: 46,XY sex reversal 9 (SRXY9)
Synonyms:: 46,XY SEX REVERSAL, ZFPM2-RELATED
Identifiers:: MONDO: MONDO:0014480; MedGen: C4015129; Orphanet: 251510; OMIM: 616067

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004522133	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 3, 2023)	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

SCV004522133

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 3, 2023)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004522133.1

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

Description

This variant, c.898_900dup, results in the insertion of 1 amino acid(s) of the ZFPM2 protein (p.Phe300dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774999938, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

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