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NC_000015.10:g.65029827_65029828insATTTATTTATTTATTT AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 22, 2020
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:
RCV001635904.3

Allele description [Variation Report for NC_000015.10:g.65029827_65029828insATTTATTTATTTATTT]

NC_000015.10:g.65029827_65029828insATTTATTTATTTATTT

Gene:
MTFMT:mitochondrial methionyl-tRNA formyltransferase [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NC_000015.10:g.65029827_65029828insATTTATTTATTTATTT
HGVS:
  • NC_000015.10:g.65029827_65029828insATTTATTTATTTATTT
  • NG_029184.1:g.4812_4813insAAATAAATAAATAAAT
  • NC_000015.9:g.65322165_65322166insATTTATTTATTTATTT
Links:
dbSNP: rs764189876
NCBI 1000 Genomes Browser:
rs764189876

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001848049GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Aug 22, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001848049.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023