NM_001024630.4(RUNX2):c.231_254dup (p.Ala89_Val90insAlaAlaAlaAlaAlaAlaAlaAla) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 23, 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:: RCV003857183.2

Allele description [Variation Report for NM_001024630.4(RUNX2):c.231_254dup (p.Ala89_Val90insAlaAlaAlaAlaAlaAlaAlaAla)]

NM_001024630.4(RUNX2):c.231_254dup (p.Ala89_Val90insAlaAlaAlaAlaAlaAlaAlaAla)

Genes:

RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
LOC109611589:runt related transcription factor 2 polyalanine expansion region [Gene]

Variant type:

Duplication

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_001024630.4(RUNX2):c.231_254dup (p.Ala89_Val90insAlaAlaAlaAlaAlaAlaAlaAla)

HGVS:

NC_000006.12:g.45422765_45422788dup
NG_008020.2:g.99449_99472dup
NG_052657.1:g.187_210dup
NM_001015051.4:c.231_254dup
NM_001024630.4:c.231_254dupMANE SELECT
NM_001278478.2:c.189_212dup
NM_001369405.1:c.189_212dup
NM_004348.3:c.189_212dup
NP_001015051.3:p.Ala89_Val90insAlaAlaAlaAlaAlaAlaAlaAla
NP_001019801.3:p.Ala89_Val90insAlaAlaAlaAlaAlaAlaAlaAla
NP_001265407.1:p.Ala75_Val76insAlaAlaAlaAlaAlaAlaAlaAla
NP_001356334.1:p.Ala75_Val76insAlaAlaAlaAlaAlaAlaAlaAla
NP_004339.3:p.Ala75_Val76insAlaAlaAlaAlaAlaAlaAlaAla
NC_000006.11:g.45390496_45390497insGCGGCTGCGGCGGCGGCGGCGGCT
NC_000006.11:g.45390502_45390525dup

Molecular consequence:

NM_004348.3:c.189_212dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001015051.4:c.231_254dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001024630.4:c.231_254dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001278478.2:c.189_212dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369405.1:c.189_212dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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D1 reaction center protein of photosystem II (chloroplast) [Chlorosarcinopsis er...
D1 reaction center protein of photosystem II (chloroplast) [Chlorosarcinopsis eremi]
gi|1642525936|ref|YP_009632751.1|

Protein
PREDICTED: Drosophila sechellia E3 ubiquitin-protein ligase RNF4 (LOC6614519), m...
PREDICTED: Drosophila sechellia E3 ubiquitin-protein ligase RNF4 (LOC6614519), mRNA
gi|1818115901|ref|XM_002038914.2|

Nucleotide
nssv2795069 (0)
SRA
nssv2793113 (0)
SRA
PREDICTED: Hyaena hyaena laminin subunit alpha 1 (LAMA1), transcript variant X2,...
PREDICTED: Hyaena hyaena laminin subunit alpha 1 (LAMA1), transcript variant X2, mRNA
gi|1965572193|ref|XM_039218722.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004662910	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 23, 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

SCV004662910

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 23, 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, SCV004662910.1

#	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.231_254dup, results in the insertion of 8 amino acid(s) of the RUNX2 protein (p.Ala82_Ala89dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RUNX2-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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