NM_003480.4(MFAP5):c.139+15_139+19del AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001704806.17

Allele description [Variation Report for NM_003480.4(MFAP5):c.139+15_139+19del]

NM_003480.4(MFAP5):c.139+15_139+19del

Gene:

MFAP5:microfibril associated protein 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_003480.4(MFAP5):c.139+15_139+19del

HGVS:

NC_000012.12:g.8655770_8655774del
NG_041814.1:g.12118_12122del
NM_001297709.2:c.139+15_139+19del
NM_001297710.2:c.103+15_103+19del
NM_001297711.2:c.139+15_139+19del
NM_001297712.2:c.139+15_139+19del
NM_003480.4:c.139+15_139+19delMANE SELECT
NC_000012.11:g.8808363_8808367del
NC_000012.11:g.8808366_8808370del
NM_003480.3:c.139+15_139+19delTGTTT
NM_003480.3:c.139+15_139+19delTGTTT

Links:

dbSNP: rs71042401

NCBI 1000 Genomes Browser:

rs71042401

Molecular consequence:

NM_001297709.2:c.139+15_139+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001297710.2:c.103+15_103+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001297711.2:c.139+15_139+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_001297712.2:c.139+15_139+19del - intron variant - [Sequence Ontology: SO:0001627]
NM_003480.4:c.139+15_139+19del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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baseplate wedge subunit and tail pin [Escherichia phage WilhelmHis]
baseplate wedge subunit and tail pin [Escherichia phage WilhelmHis]
gi|2071749468|gb|QXV86108.1|

Protein
neck protein [Escherichia phage WilhelmHis]
neck protein [Escherichia phage WilhelmHis]
gi|2071749472|gb|QXV86112.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000730220	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (May 30, 2018)	germline	clinical testing	Citation Link,
SCV002452615	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	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

SCV000730220

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(May 30, 2018)

germline

clinical testing

Citation Link,

SCV002452615

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
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 GeneDx, SCV000730220.1

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

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002452615.4

#	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: Oct 26, 2024

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