NC_000003.11:g.(?_186256485)_(187009420_?)dup AND 3MC syndrome 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 12, 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:: RCV003119728.2

Allele description

NC_000003.11:g.(?_186256485)_(187009420_?)dup

Genes:

DNAJB11:DnaJ heat shock protein family (Hsp40) member B11 [Gene - OMIM - HGNC]
MASP1:MBL associated serine protease 1 [Gene - OMIM - HGNC]
ST6GAL1:ST6 beta-galactoside alpha-2,6-sialyltransferase 1 [Gene - OMIM - HGNC]
TBCCD1:TBCC domain containing 1 [Gene - OMIM - HGNC]
ADIPOQ:adiponectin, C1Q and collagen domain containing [Gene - OMIM - HGNC]
AHSG:alpha 2-HS glycoprotein [Gene - OMIM - HGNC]
CRYGS:crystallin gamma S [Gene - OMIM - HGNC]
EIF4A2:eukaryotic translation initiation factor 4A2 [Gene - OMIM - HGNC]
FETUB:fetuin B [Gene - OMIM - HGNC]
HRG:histidine rich glycoprotein [Gene - OMIM - HGNC]
KNG1:kininogen 1 [Gene - OMIM - HGNC]
RTP1:receptor transporter protein 1 [Gene - OMIM - HGNC]
RFC4:replication factor C subunit 4 [Gene - OMIM - HGNC]
RPL39L:ribosomal protein L39 like [Gene - OMIM - HGNC]
SNORA63:small nucleolar RNA, H/ACA box 63 [Gene - OMIM - HGNC]
SNORA81:small nucleolar RNA, H/ACA box 81 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q27.3

Genomic location:

Chr3: 186256485 - 187009420 (on Assembly GRCh37)

Preferred name:

NC_000003.11:g.(?_186256485)_(187009420_?)dup

HGVS:

NC_000003.11:g.(?_186256485)_(187009420_?)dup

Condition(s)

Name:: 3MC syndrome 1
Synonyms:: Michels syndrome; Oculopalatoskeletal syndrome; Craniosynostosis with lid anomalies
Identifiers:: MONDO: MONDO:0009770; MedGen: C0796059; Orphanet: 293843; OMIM: 257920

Recent activity

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Bursera malacophylla voucher Tye 9298 (TEX) granule-bound starch synthase I (GBS...
Bursera malacophylla voucher Tye 9298 (TEX) granule-bound starch synthase I (GBSSI) gene, exons 9 through 11 and partial cds
gi|281324618|gb|GQ505933.1|

Nucleotide
TPA: tumor necrosis factor ligand 1a [Mus musculus]
TPA: tumor necrosis factor ligand 1a [Mus musculus]
gi|972853956|tpe|CTQ86155.1|

Protein
MAG: hypothetical protein CO147_00200 [Nitrospirae bacterium CG_4_9_14_3_um_filt...
MAG: hypothetical protein CO147_00200 [Nitrospirae bacterium CG_4_9_14_3_um_filter_44_28]
gi|1278569316|gb|PJA83861.1||gnl|WG T|CO147_00200

Protein
transcription factor ATOH8 isoform X3 [Homo sapiens]
transcription factor ATOH8 isoform X3 [Homo sapiens]
gi|2217331578|ref|XP_047302050.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003796350	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 12, 2022)	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

SCV003796350

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 12, 2022)

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 Invitae, SCV003796350.2

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

Description

A copy number gain of the genomic region encompassing the full coding sequence of the MASP1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with MASP1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Dec 9, 2023

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