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NM_005937.4(MLLT6):c.1903G>C (p.Val635Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 9, 2023
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:
RCV004320944.1

Allele description [Variation Report for NM_005937.4(MLLT6):c.1903G>C (p.Val635Leu)]

NM_005937.4(MLLT6):c.1903G>C (p.Val635Leu)

Gene:
MLLT6:MLLT6, PHD finger containing [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_005937.4(MLLT6):c.1903G>C (p.Val635Leu)
HGVS:
  • NC_000017.11:g.38717914G>C
  • NG_136395.1:g.629G>C
  • NM_005937.4:c.1903G>CMANE SELECT
  • NP_005928.2:p.Val635Leu
  • NC_000017.10:g.36874167G>C
  • NM_005937.3:c.1903G>C
Protein change:
V635L
Molecular consequence:
  • NM_005937.4:c.1903G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003977593Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003977593.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1903G>C (p.V635L) alteration is located in exon 12 (coding exon 12) of the MLLT6 gene. This alteration results from a G to C substitution at nucleotide position 1903, causing the valine (V) at amino acid position 635 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024