NM_000091.5(COL4A3):c.4560A>T (p.Ser1520=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 28, 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:: RCV003574639.2

Allele description [Variation Report for NM_000091.5(COL4A3):c.4560A>T (p.Ser1520=)]

NM_000091.5(COL4A3):c.4560A>T (p.Ser1520=)

Genes:

MFF-DT:MFF divergent transcript [Gene - HGNC]
COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_000091.5(COL4A3):c.4560A>T (p.Ser1520=)

HGVS:

NC_000002.12:g.227308996A>T
NG_011591.1:g.149432A>T
NM_000091.5:c.4560A>TMANE SELECT
NP_000082.2:p.Ser1520=
NP_000082.2:p.Ser1520=
LRG_230t1:c.4560A>T
LRG_230:g.149432A>T
LRG_230p1:p.Ser1520=
NC_000002.11:g.228173712A>T
NM_000091.4:c.4560A>T

Molecular consequence:

NM_000091.5:c.4560A>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RecName: Full=E3 ubiquitin-protein ligase TRIM37; AltName: Full=Mulibrey nanism ...
RecName: Full=E3 ubiquitin-protein ligase TRIM37; AltName: Full=Mulibrey nanism protein; AltName: Full=RING-type E3 ubiquitin transferase TRIM37; AltName: Full=Tripartite motif-containing protein 37
gi|55976224|sp|O94972.2|TRI37_HUMAN

Protein
RecName: Full=ATP-sensitive inward rectifier potassium channel 12; AltName: Full...
RecName: Full=ATP-sensitive inward rectifier potassium channel 12; AltName: Full=Inward rectifier K(+) channel Kir2.2; Short=IRK-2; AltName: Full=Inward rectifier K(+) channel Kir2.2v; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 12
gi|77416868|sp|Q14500.2|KCJ12_HUMAN

Protein
RecName: Full=Caspase-14; Short=CASP-14; Contains: RecName: Full=Caspase-14 subu...
RecName: Full=Caspase-14; Short=CASP-14; Contains: RecName: Full=Caspase-14 subunit p17, mature form; Contains: RecName: Full=Caspase-14 subunit p10, mature form; Contains: RecName: Full=Caspase-14 subunit p20, intermediate form; Contains: RecName: Full=Caspase-14 subunit p8, intermediate form; Flags: Precursor
gi|12231007|sp|P31944.2|CASPE_HUMAN

Protein
RecName: Full=C-terminal-binding protein 2; Short=CtBP2
RecName: Full=C-terminal-binding protein 2; Short=CtBP2
gi|3182976|sp|P56545.1|CTBP2_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004337977	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Oct 28, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004337977

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Oct 28, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004337977.1

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

#	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: Sep 29, 2024

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