Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • See Evidence submitted by expert panel for details.

Variant: NM_000260.3(MYO7A):c.3503+12_3503+33delGAGGCGGGGACACCAGGGCCTG

CA132294

43207 (ClinVar)

Gene: MYO7A
Condition: nonsyndromic genetic deafness
Link to MONDO
UUID: 458d2d78-e20e-4916-a70b-7ea43611edcf
Approved on: 2018-09-28
Published on: 2019-07-17

HGVS expressions

NM_000260.3:c.3503+11_3503+32delGGAGGCGGGGACACCAGGGCCT
NM_000260.3:c.3503+12_3503+33del22
NM_000260.3:c.3503+12_3503+33del
NM_000260.3:c.3503+12_3503+33delGAGGCGGGGACACCAGGGCCTG
NM_000260.3(MYO7A):c.3503+12_3503+33delGAGGCGGGGACACCAGGGCCTG
NM_001127179.2:c.3515_3536del
NM_001127180.1:c.3503+12_3503+33del
NM_000260.4:c.3503+12_3503+33del
ENST00000409619.6:c.3470+12_3470+33del
ENST00000409709.7:c.3503+12_3503+33del
ENST00000409893.5:c.3515_3536del
ENST00000458169.2:n.1046+12_1046+33del
ENST00000458637.6:c.3503+12_3503+33del
ENST00000467137.1:n.30+12_30+33del
ENST00000481328.7:n.1046+12_1046+33del
ENST00000620575.4:c.3501-8_3514del
NC_000011.10:g.77184727_77184748del
CM000673.2:g.77184727_77184748del
NC_000011.9:g.76895772_76895793del
CM000673.1:g.76895772_76895793del
NC_000011.8:g.76573420_76573441del
NG_009086.1:g.61463_61484del
More

Benign

Met criteria codes 1
BA1
Not Met criteria codes 20
PS3 PS4 PS2 PS1 BP4 BP2 BP3 BP7 BP5 PP3 PP1 PP4 PM1 PM3 PM5 PM4 PM6 PVS1 BS2 BS4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Hearing Loss VCEP
The filtering allele frequency of the c.3503+12_3503+33del (p.Gly1172GlufsX34) variant in the MYO7A gene is 50.8% (11084/21494) of European (Finnish) chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1).
Met criteria codes
BA1
0.326 (European (Non-Finnish)) Filtering allele frequency in ExAC.
Not Met criteria codes
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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