NM_001848.3(COL6A1):c.324C>T (p.Gly108=) AND not specified

Clinical significance:Benign (Last evaluated: Jun 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000177134.5

Allele description [Variation Report for NM_001848.3(COL6A1):c.324C>T (p.Gly108=)]

NM_001848.3(COL6A1):c.324C>T (p.Gly108=)

Gene:
COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001848.3(COL6A1):c.324C>T (p.Gly108=)
HGVS:
  • NC_000021.9:g.45984365C>T
  • NG_008674.1:g.7617C>T
  • NM_001848.2:c.324C>T
  • NM_001848.3:c.324C>TMANE SELECT
  • NP_001839.2:p.Gly108=
  • NP_001839.2:p.Gly108=
  • LRG_475t1:c.324C>T
  • LRG_475:g.7617C>T
  • LRG_475p1:p.Gly108=
  • NC_000021.8:g.47404279C>T
Links:
dbSNP: rs138646508
NCBI 1000 Genomes Browser:
rs138646508
Molecular consequence:
  • NM_001848.2:c.324C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001848.3:c.324C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
8

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000228964EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jun 27, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown8not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000228964.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided8not providednot providednot provided

Last Updated: Nov 27, 2021

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