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NM_138773.4(SLC25A46):c.714G>A (p.Glu238=) AND Neuropathy, hereditary motor and sensory, type 6B

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 1, 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:
RCV001522699.8

Allele description

NM_138773.4(SLC25A46):c.714G>A (p.Glu238=)

Gene:
SLC25A46:solute carrier family 25 member 46 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.1
Genomic location:
Preferred name:
NM_138773.4(SLC25A46):c.714G>A (p.Glu238=)
HGVS:
  • NC_000005.10:g.110761239G>A
  • NG_051334.1:g.28104G>A
  • NM_001303249.3:c.679-208G>A
  • NM_001303250.3:c.441G>A
  • NM_138773.4:c.714G>AMANE SELECT
  • NP_001290179.1:p.Glu147=
  • NP_620128.1:p.Glu238=
  • LRG_1091t1:c.714G>A
  • LRG_1091:g.28104G>A
  • LRG_1091p1:p.Glu238=
  • NC_000005.9:g.110096939G>A
  • NM_138773.2:c.714G>A
  • NR_138151.2:n.953G>A
Links:
dbSNP: rs7724788
NCBI 1000 Genomes Browser:
rs7724788
Molecular consequence:
  • NM_001303249.3:c.679-208G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_138151.2:n.953G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001303250.3:c.441G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_138773.4:c.714G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Neuropathy, hereditary motor and sensory, type 6B (HMSN6B)
Synonyms:
HMSN VIB; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0014671; MedGen: C4225302; OMIM: 616505

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001732287Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Feb 1, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Invitae, SCV001732287.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024