NM_003599.4(SUPT3H):c.335A>G (p.Lys112Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 6, 2022
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:: RCV004162263.1

Allele description [Variation Report for NM_003599.4(SUPT3H):c.335A>G (p.Lys112Arg)]

NM_003599.4(SUPT3H):c.335A>G (p.Lys112Arg)

Gene:

SUPT3H:SPT3 homolog, SAGA and STAGA complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_003599.4(SUPT3H):c.335A>G (p.Lys112Arg)

HGVS:

NC_000006.12:g.45014830T>C
NM_001261823.2:c.-93+5716A>G
NM_001350324.2:c.335A>G
NM_001350325.2:c.329A>G
NM_001350326.2:c.272A>G
NM_001350327.2:c.77A>G
NM_001350329.2:c.335A>G
NM_003599.4:c.335A>GMANE SELECT
NM_181356.3:c.368A>G
NP_001337253.1:p.Lys112Arg
NP_001337254.1:p.Lys110Arg
NP_001337255.1:p.Lys91Arg
NP_001337256.1:p.Lys26Arg
NP_001337258.1:p.Lys112Arg
NP_003590.1:p.Lys112Arg
NP_852001.1:p.Lys123Arg
NC_000006.11:g.44982567T>C
NM_181356.1:c.368A>G
NR_146632.2:n.502A>G
NR_146633.1:n.494A>G
NR_146634.2:n.488A>G
NR_146635.2:n.494A>G

Protein change:

K110R

Molecular consequence:

NM_001261823.2:c.-93+5716A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001350324.2:c.335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350325.2:c.329A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350326.2:c.272A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350327.2:c.77A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001350329.2:c.335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003599.4:c.335A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181356.3:c.368A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_146632.2:n.502A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146633.1:n.494A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146634.2:n.488A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146635.2:n.494A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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unnamed protein product [Aspergillus oryzae RIB40]
unnamed protein product [Aspergillus oryzae RIB40]
gi|1300568064|ref|XP_023093904.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003645199	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003645199

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 6, 2022)

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, SCV003645199.2

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

Description

The c.368A>G (p.K123R) alteration is located in exon 7 (coding exon 5) of the SUPT3H gene. This alteration results from a A to G substitution at nucleotide position 368, causing the lysine (K) at amino acid position 123 to be replaced by an arginine (R). 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 3, 2024

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