NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) AND Charcot-Marie-Tooth disease type 4

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 16, 2024
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:: RCV001085919.10

Allele description [Variation Report for NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)]

NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)

Genes:

SBF2:SET binding factor 2 [Gene - OMIM - HGNC]
LOC101928008:uncharacterized LOC101928008 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)

HGVS:

NC_000011.10:g.9839663G>T
NG_008074.1:g.459545C>A
NM_001386339.1:c.3290C>A
NM_001386342.1:c.3161C>A
NM_030962.4:c.3290C>AMANE SELECT
NP_001373268.1:p.Thr1097Asn
NP_001373271.1:p.Thr1054Asn
NP_112224.1:p.Thr1097Asn
NP_112224.1:p.Thr1097Asn
LRG_267t1:c.3290C>A
LRG_267:g.459545C>A
LRG_267p1:p.Thr1097Asn
NC_000011.9:g.9861210G>T
NM_030962.3:c.3290C>A
p.Thr1097Asn

Protein change:

T1054N

Links:

dbSNP: rs141894081

NCBI 1000 Genomes Browser:

rs141894081

Molecular consequence:

NM_001386339.1:c.3290C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386342.1:c.3161C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_030962.4:c.3290C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 4
Synonyms:: Charcot-Marie-Tooth, Type 4; Charcot-Marie-Tooth disease, type IV
Identifiers:: MONDO: MONDO:0018995; MedGen: C4082197

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000657953	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 16, 2024)	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

SCV000657953

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 16, 2024)

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, SCV000657953.9

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

#	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: May 25, 2025

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