NM_005934.4(MLLT1):c.886A>G (p.Ser296Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 21, 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:: RCV004361613.1

Allele description [Variation Report for NM_005934.4(MLLT1):c.886A>G (p.Ser296Gly)]

NM_005934.4(MLLT1):c.886A>G (p.Ser296Gly)

Gene:

MLLT1:MLLT1 super elongation complex subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_005934.4(MLLT1):c.886A>G (p.Ser296Gly)

HGVS:

NC_000019.10:g.6222345T>C
NM_005934.4:c.886A>GMANE SELECT
NP_005925.2:p.Ser296Gly
NC_000019.9:g.6222356T>C
NM_005934.3:c.886A>G

Protein change:

S296G

Molecular consequence:

NM_005934.4:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens OSBP-related protein 4 mRNA, complete cds
Homo sapiens OSBP-related protein 4 mRNA, complete cds
gi|12382780|gb|AF323731.1|

Nucleotide
Chain H, SAV_2001
Chain H, SAV_2001
gi|195927565|pdb|3DEX|H

Protein
Gene neighbors for Gene (Select 121740656) (38)
Gene
Nucleotide Links for Gene (Select 102546557) (3)
Nucleotide
PREDICTED: Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), tr...
PREDICTED: Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), transcript variant X12, mRNA
gi|2462570955|ref|XM_054340942.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004095735	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004095735

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 21, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004095735.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.886A>G (p.S296G) alteration is located in exon 6 (coding exon 6) of the MLLT1 gene. This alteration results from a A to G substitution at nucleotide position 886, causing the serine (S) at amino acid position 296 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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