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NM_000116.5(TAFAZZIN):c.778-63_778-51del AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jul 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001712940.5

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.778-63_778-51del]

NM_000116.5(TAFAZZIN):c.778-63_778-51del

Gene:
TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000116.5(TAFAZZIN):c.778-63_778-51del
HGVS:
  • NC_000023.11:g.154420827CTCCCAGGGCACC[1]
  • NG_009634.2:g.14293CTCCCAGGGCACC[1]
  • NM_000116.4:c.778-63_778-51del13
  • NM_000116.5:c.778-63_778-51delMANE SELECT
  • NM_001303465.2:c.790-63_790-51del
  • NM_181311.4:c.688-63_688-51del
  • NM_181312.4:c.736-63_736-51del
  • NM_181313.4:c.646-63_646-51del
  • LRG_131t1:c.778-63_778-51del
  • LRG_131:g.14293CTCCCAGGGCACC[1]
  • NC_000023.10:g.153649162_153649174del
  • NC_000023.10:g.153649166CTCCCAGGGCACC[1]
  • NG_009634.1:g.14290CTCCCAGGGCACC[1]
Links:
dbSNP: rs782249471
NCBI 1000 Genomes Browser:
rs782249471
Molecular consequence:
  • NM_000116.5:c.778-63_778-51del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001303465.2:c.790-63_790-51del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181311.4:c.688-63_688-51del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181312.4:c.736-63_736-51del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181313.4:c.646-63_646-51del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001944670GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Oct 1, 2018) 		germlineclinical testing

Citation Link,

SCV005093671CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Jul 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001944670.2

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

From CeGaT Center for Human Genetics Tuebingen, SCV005093671.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

TAFAZZIN: BS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024